{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA226468",
  "communityStandardTitle": [
    "NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104706[alleleid]",
        "alleleId": 104706,
        "preferredName": "NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98816",
        "RCV": [
          "RCV000085139"
        ],
        "variationId": 98816
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.38160579A>C?assembly=hg19",
        "id": "chrX:g.38160579A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.38301326A>C?assembly=hg38",
        "id": "chrX:g.38301326A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62640594",
        "rs": 62640594
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 38301326,
          "referenceAllele": "A",
          "start": 38301325
        }
      ],
      "hgvs": [
        "NC_000023.11:g.38301326A>C",
        "CM000685.2:g.38301326A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 38160579,
          "referenceAllele": "A",
          "start": 38160578
        }
      ],
      "hgvs": [
        "NC_000023.10:g.38160579A>C",
        "CM000685.1:g.38160579A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 38045523,
          "referenceAllele": "A",
          "start": 38045522
        }
      ],
      "hgvs": [
        "NC_000023.9:g.38045523A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31210,
          "referenceAllele": "T",
          "start": 31209
        }
      ],
      "hgvs": [
        "NG_009553.1:g.31210T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001607"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 184,
          "referenceAllele": "T",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000494707.6:c.184T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1234,
          "referenceAllele": "T",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000642170.1:n.1234T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766595"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1122,
          "referenceAllele": "T",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000642395.2:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493468.2:p.Leu327Ter",
        "hgvsWellDefined": "ENSP00000493468.2:p.Leu327_Leu815delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766720"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1035,
          "referenceAllele": "T",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000642558.1:c.887T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496427.1:p.Leu296Ter",
        "hgvsWellDefined": "ENSP00000496427.1:p.Leu296Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1140,
          "referenceAllele": "T",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000642739.1:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493596.1:p.Leu327Ter",
        "hgvsWellDefined": "ENSP00000493596.1:p.Leu327_Ser673delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysMetGluPheArgSerCysCysProGlyTrpSerAlaMetAlaArgSerTrpLeuThrThrIleLeuProProArgPheLysArgPheSerCysLeuSerLeuProSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766904"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1128,
          "referenceAllele": "T",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000644238.1:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496728.1:p.Leu327Ter",
        "hgvsWellDefined": "ENSP00000496728.1:p.Leu327_Leu642delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767715"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1148,
          "referenceAllele": "T",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000644337.1:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494557.1:p.Leu327Ter",
        "hgvsWellDefined": "ENSP00000494557.1:p.Leu327_Leu753delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767768"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1122,
          "referenceAllele": "T",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000645032.1:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495537.1:p.Leu327Ter",
        "hgvsWellDefined": "ENSP00000495537.1:p.Leu327_Lys1152delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluValSerGluGlyLysAlaLysSerValGlyGluAlaGluAspGlyProGluGlyArgGlyAspGlyThrCysGluGluGlySerSerGlyAlaGluHisTrpGlnAspGluGluArgGluLysGlyGluLysAspLysGlyArgGlyGluMetGluArgProGlyGluGlyGluLysGluLeuAlaGluLysGluGluTrpLysLysArgAspGlyGluGluGlnGluGlnLysGluArgGluGlnGlyHisGlnLysGluArgAsnGlnGluMetGluGluGlyGlyGluGluGluHisGlyGluGlyGluGluGluGluGlyAspArgGluGluGluGluGluLysGluGlyGluGlyLysGluGluGlyGluGlyGluGluValGluGlyGluArgGluLysGluGluGlyGluArgLysLysGluGluArgAlaGlyLysGluGluLysGlyGluGluGluGlyAspGlnGlyGluGlyGluGluGluGluThrGluGlyArgGlyGluGluLysGluGluGlyGlyGluValGluGlyGlyGluValGluGluGlyLysGlyGluArgGluGluGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGluGlyGluValGluGlyGluValGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluArgGluLysGluGlyGluGlyGluGluAsnArgArgAsnArgGluGluGluGluGluGluGluGlyLysTyrGlnGluThrGlyGluGluGluAsnGluArgGlnAspGlyGluGluTyrLysLysValSerLysIleLysGlySerValLysTyrGlyLysHisLysThrTyrGlnLysLysSerValThrAsnThrGlnGlyAsnGlyLysGluGlnArgSerLysMetProValGlnSerLysArgLeuLeuLysAsnGlyProSerGlySerLysLysPheTrpAsnAsnValLeuProHisTyrLeuGluLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768134",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645032.1:c.980T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001034853.2:c.980T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495537.1:p.Leu327Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001030025.1:p.Leu327Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1116,
          "referenceAllele": "T",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000645124.1:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496446.1:p.Leu327Ter",
        "hgvsWellDefined": "ENSP00000496446.1:p.Leu327_Glu540delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysArgSerGlnArgArgArgLysGluGlnArgIleGlnLysGluMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1201,
          "referenceAllele": "T",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000646020.1:c.1040T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494745.1:p.Leu347Ter",
        "hgvsWellDefined": "ENSP00000494745.1:p.Leu347_Leu508delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspMetArgPheHisArgValSerGlnAspGlyLeuAspLeuLeuThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768653"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1177,
          "referenceAllele": "T",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000318842.11:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322219.6:p.Leu327Ter",
        "hgvsWellDefined": "ENSP00000322219.6:p.Leu327_Leu815delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257585"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1148,
          "referenceAllele": "T",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000339363.7:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343671.3:p.Leu327Ter",
        "hgvsWellDefined": "ENSP00000343671.3:p.Leu327_Leu1020delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGlyAsnAspThrGlyGlnValGlyProGlnAlaAspThrAspGlyGluGlyLeuGlnLysGluValTyrArgHisGluAsnAsnAsnGlyValAspGlnLeuAspAlaLysGluIleGluLysGluSerAspGlyGlyHisSerGlnLysGluSerGluAlaGluGluIleAspSerGluLysGluThrLysLeuAlaGluIleAlaGlyMetLysAspLeuArgGluArgGluLysSerThrLysLysMetSerProPhePheGlyAsnLeuProAspArgGlyMetAsnThrGluSerGluGluAsnLysAspPheValLysLysArgGluSerCysLysGlnAspValIlePheAspSerGluArgGluSerValGluLysProAspSerTyrMetGluGlyAlaSerGluSerGlnGlnGlyIleAlaAspGlyPheGlnGlnProGluAlaIleGluPheSerSerGlyGluLysGluAspAspGluValGluThrAspGlnAsnIleArgTyrGlyArgLysLeuIleGluGlnGlyAsnGluLysGluThrLysProIleIleSerLysSerMetAlaLysTyrAspPheLysCysAspArgLeuSerGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1157,
          "referenceAllele": "T",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000378505.6:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367766.2:p.Leu327Ter",
        "hgvsWellDefined": "ENSP00000367766.2:p.Leu327_Lys1152delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluValSerGluGlyLysAlaLysSerValGlyGluAlaGluAspGlyProGluGlyArgGlyAspGlyThrCysGluGluGlySerSerGlyAlaGluHisTrpGlnAspGluGluArgGluLysGlyGluLysAspLysGlyArgGlyGluMetGluArgProGlyGluGlyGluLysGluLeuAlaGluLysGluGluTrpLysLysArgAspGlyGluGluGlnGluGlnLysGluArgGluGlnGlyHisGlnLysGluArgAsnGlnGluMetGluGluGlyGlyGluGluGluHisGlyGluGlyGluGluGluGluGlyAspArgGluGluGluGluGluLysGluGlyGluGlyLysGluGluGlyGluGlyGluGluValGluGlyGluArgGluLysGluGluGlyGluArgLysLysGluGluArgAlaGlyLysGluGluLysGlyGluGluGluGlyAspGlnGlyGluGlyGluGluGluGluThrGluGlyArgGlyGluGluLysGluGluGlyGlyGluValGluGlyGlyGluValGluGluGlyLysGlyGluArgGluGluGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGluGlyGluValGluGlyGluValGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluArgGluLysGluGlyGluGlyGluGluAsnArgArgAsnArgGluGluGluGluGluGluGluGlyLysTyrGlnGluThrGlyGluGluGluAsnGluArgGlnAspGlyGluGluTyrLysLysValSerLysIleLysGlySerValLysTyrGlyLysHisLysThrTyrGlnLysLysSerValThrAsnThrGlnGlyAsnGlyLysGluGlnArgSerLysMetProValGlnSerLysArgLeuLeuLysAsnGlyProSerGlySerLysLysPheTrpAsnAsnValLeuProHisTyrLeuGluLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 46,
          "referenceAllele": "T",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000464437.1:c.46T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 278,
          "endIntronDirection": "-",
          "endIntronOffset": 364794,
          "referenceAllele": "A",
          "start": 278,
          "startIntronDirection": "-",
          "startIntronOffset": 364795
        }
      ],
      "hgvs": [
        "ENST00000465127.1:c.172-364795A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417050.1:n.172-364795A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "T",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000474584.5:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418926.1:p.Leu327Ter",
        "hgvsWellDefined": "ENSP00000418926.1:p.Leu327_Gln480delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspThrHisHisGluProGluPheGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316065"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1035,
          "referenceAllele": "T",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000482855.5:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419276.1:p.Leu327Ter",
        "hgvsWellDefined": "ENSP00000419276.1:p.Leu327_Val646delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluTyrSerAlaSerHisSerGlnIleValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 243,
          "referenceAllele": "T",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000494841.1:n.243T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331675"
    },
    {
      "@id": "http://reg.genome.network/allele/PA226469",
      "coordinates": [
        {
          "allele": "G",
          "end": 1148,
          "referenceAllele": "T",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_000328.2:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000319.1:p.Leu327Ter",
        "hgvsWellDefined": "NP_000319.1:p.Leu327_Leu815delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006391"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825376137",
      "coordinates": [
        {
          "allele": "G",
          "end": 1148,
          "referenceAllele": "T",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001034853.1:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030025.1:p.Leu327Ter",
        "hgvsWellDefined": "NP_001030025.1:p.Leu327_Lys1152delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluValSerGluGlyLysAlaLysSerValGlyGluAlaGluAspGlyProGluGlyArgGlyAspGlyThrCysGluGluGlySerSerGlyAlaGluHisTrpGlnAspGluGluArgGluLysGlyGluLysAspLysGlyArgGlyGluMetGluArgProGlyGluGlyGluLysGluLeuAlaGluLysGluGluTrpLysLysArgAspGlyGluGluGlnGluGlnLysGluArgGluGlnGlyHisGlnLysGluArgAsnGlnGluMetGluGluGlyGlyGluGluGluHisGlyGluGlyGluGluGluGluGlyAspArgGluGluGluGluGluLysGluGlyGluGlyLysGluGluGlyGluGlyGluGluValGluGlyGluArgGluLysGluGluGlyGluArgLysLysGluGluArgAlaGlyLysGluGluLysGlyGluGluGluGlyAspGlnGlyGluGlyGluGluGluGluThrGluGlyArgGlyGluGluLysGluGluGlyGlyGluValGluGlyGlyGluValGluGluGlyLysGlyGluArgGluGluGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGluGlyGluValGluGlyGluValGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluArgGluLysGluGlyGluGlyGluGluAsnArgArgAsnArgGluGluGluGluGluGluGluGlyLysTyrGlnGluThrGlyGluGluGluAsnGluArgGlnAspGlyGluGluTyrLysLysValSerLysIleLysGlySerValLysTyrGlyLysHisLysThrTyrGlnLysLysSerValThrAsnThrGlnGlyAsnGlyLysGluGlnArgSerLysMetProValGlnSerLysArgLeuLeuLysAsnGlyProSerGlySerLysLysPheTrpAsnAsnValLeuProHisTyrLeuGluLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1177,
          "referenceAllele": "T",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "XM_005272633.1:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272690.1:p.Leu327Ter",
        "hgvsWellDefined": "XP_005272690.1:p.Leu327_Leu704delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "T",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "XM_011543940.1:c.977T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542242.1:p.Leu326Ter",
        "hgvsWellDefined": "XP_011542242.1:p.Leu326_Leu814delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110853"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "T",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "XM_005272633.3:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272690.1:p.Leu327Ter",
        "hgvsWellDefined": "XP_005272690.1:p.Leu327_Leu704delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1152,
          "referenceAllele": "T",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "XM_011543940.3:c.977T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542242.1:p.Leu326Ter",
        "hgvsWellDefined": "XP_011542242.1:p.Leu326_Leu814delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555436"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1152,
          "referenceAllele": "T",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "XM_017029712.2:c.977T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885201.1:p.Leu326Ter",
        "hgvsWellDefined": "XP_016885201.1:p.Leu326_Leu703delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828223928",
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "T",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001367245.1:c.977T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354174.1:p.Leu326Ter",
        "hgvsWellDefined": "NP_001354174.1:p.Leu326_Leu814delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828224675",
      "coordinates": [
        {
          "allele": "G",
          "end": 1122,
          "referenceAllele": "T",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001367246.1:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354175.1:p.Leu327Ter",
        "hgvsWellDefined": "NP_001354175.1:p.Leu327_Leu753delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664513"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828225382",
      "coordinates": [
        {
          "allele": "G",
          "end": 1122,
          "referenceAllele": "T",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001367247.1:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354176.1:p.Leu327Ter",
        "hgvsWellDefined": "NP_001354176.1:p.Leu327_Leu704delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664514"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916046295",
      "coordinates": [
        {
          "allele": "G",
          "end": 1048,
          "referenceAllele": "T",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001367248.1:c.1010T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354177.1:p.Leu337Ter",
        "hgvsWellDefined": "NP_001354177.1:p.Leu337_Leu714delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828226400",
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "T",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001367249.1:c.977T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354178.1:p.Leu326Ter",
        "hgvsWellDefined": "NP_001354178.1:p.Leu326_Leu703delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664516"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828227247",
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "T",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001367250.1:c.977T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354179.1:p.Leu326Ter",
        "hgvsWellDefined": "NP_001354179.1:p.Leu326_Leu703delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664517"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828227774",
      "coordinates": [
        {
          "allele": "G",
          "end": 1122,
          "referenceAllele": "T",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001367251.1:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354180.1:p.Leu327Ter",
        "hgvsWellDefined": "NP_001354180.1:p.Leu327_Leu642delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1182,
          "referenceAllele": "T",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NR_159803.1:n.1182T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1031,
          "referenceAllele": "T",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NR_159804.1:n.1031T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673377"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1122,
          "referenceAllele": "T",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NR_159805.1:n.1122T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1122,
          "referenceAllele": "T",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NR_159806.1:n.1122T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1122,
          "referenceAllele": "T",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NR_159807.1:n.1122T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673380"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1234,
          "referenceAllele": "T",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NR_159808.1:n.1234T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673381"
    },
    {
      "@id": "http://reg.genome.network/allele/PA226469",
      "coordinates": [
        {
          "allele": "G",
          "end": 1122,
          "referenceAllele": "T",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_000328.3:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000319.1:p.Leu327Ter",
        "hgvsWellDefined": "NP_000319.1:p.Leu327_Leu815delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluAspHisGluPheSerLysThrGluGluLeuLysLeuGluAspValAspGluGluIleAsnAlaGluAsnValGluSerLysLysLysThrValGlyAspAspGluSerValProThrGlyTyrHisSerLysThrGluGlyAlaGluArgThrAsnAspAspSerSerAlaGluThrIleGluLysLysGluLysAlaAsnLeuGluGluArgAlaIleCysGluTyrAsnGluAsnProLysGlyTyrMetLeuAspAspAlaAspSerSerSerLeuGluIleLeuGluAsnSerGluThrThrProSerLysAspMetLysLysThrLysLysIlePheLeuPheLysArgValProSerIleAsnGlnLysIleValLysAsnAsnAsnGluProLeuProGluIleLysSerIleGlyAspGlnIleIleLeuLysSerAspAsnLysAspAlaAspGlnAsnHisMetSerGlnAsnHisGlnAsnIleProProThrAsnThrGluArgArgSerLysSerCysThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825376137",
      "coordinates": [
        {
          "allele": "G",
          "end": 1122,
          "referenceAllele": "T",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001034853.2:c.980T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030025.1:p.Leu327Ter",
        "hgvsWellDefined": "NP_001030025.1:p.Leu327_Lys1152delinsGlyLeuGlyLeuGluAsnPheThrAsnHisPheIleProThrLeuCysSerAsnPheLeuArgPheIleValLysLeuValAlaCysGlyGlyCysHisMetValValPheAlaAlaProHisArgGlyValAlaLysGluIleGluPheAspGluIleAsnAspThrCysLeuSerValAlaThrPheLeuProTyrSerSerLeuThrSerGlyAsnValLeuGlnArgThrLeuSerAlaArgMetArgArgArgGluArgGluArgSerProAspSerPheSerMetArgArgThrLeuProProIleGluGlyThrLeuGlyLeuSerAlaCysPheLeuProAsnSerValPheProArgCysSerGluArgAsnLeuGlnGluSerValLeuSerGluGlnAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluValSerGluGlyLysAlaLysSerValGlyGluAlaGluAspGlyProGluGlyArgGlyAspGlyThrCysGluGluGlySerSerGlyAlaGluHisTrpGlnAspGluGluArgGluLysGlyGluLysAspLysGlyArgGlyGluMetGluArgProGlyGluGlyGluLysGluLeuAlaGluLysGluGluTrpLysLysArgAspGlyGluGluGlnGluGlnLysGluArgGluGlnGlyHisGlnLysGluArgAsnGlnGluMetGluGluGlyGlyGluGluGluHisGlyGluGlyGluGluGluGluGlyAspArgGluGluGluGluGluLysGluGlyGluGlyLysGluGluGlyGluGlyGluGluValGluGlyGluArgGluLysGluGluGlyGluArgLysLysGluGluArgAlaGlyLysGluGluLysGlyGluGluGluGlyAspGlnGlyGluGlyGluGluGluGluThrGluGlyArgGlyGluGluLysGluGluGlyGlyGluValGluGlyGlyGluValGluGluGlyLysGlyGluArgGluGluGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGluGlyGluValGluGlyGluValGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluArgGluLysGluGlyGluGlyGluGluAsnArgArgAsnArgGluGluGluGluGluGluGluGlyLysTyrGlnGluThrGlyGluGluGluAsnGluArgGlnAspGlyGluGluTyrLysLysValSerLysIleLysGlySerValLysTyrGlyLysHisLysThrTyrGlnLysLysSerValThrAsnThrGlnGlyAsnGlyLysGluGlnArgSerLysMetProValGlnSerLysArgLeuLeuLysAsnGlyProSerGlySerLysLysPheTrpAsnAsnValLeuProHisTyrLeuGluLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645032.1:c.980T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001034853.2:c.980T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495537.1:p.Leu327Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001030025.1:p.Leu327Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}