{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA226531",
  "communityStandardTitle": [
    "NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28154[alleleid]",
        "alleleId": 28154,
        "preferredName": "NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13115",
        "RCV": [
          "RCV000013994",
          "RCV000085184",
          "RCV000527143",
          "RCV000787698",
          "RCV001250682",
          "RCV001257818",
          "RCV001073556",
          "RCV001275337",
          "RCV001095690",
          "RCV001813981"
        ],
        "variationId": 13115
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-68910541-G-A",
        "id": "1-68910541-G-A",
        "variant": "1:68910541 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.68910541G>A?assembly=hg19",
        "id": "chr1:g.68910541G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.68444858G>A?assembly=hg38",
        "id": "chr1:g.68444858G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61752871",
        "rs": 61752871
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-68910541-G-A?dataset=gnomad_r2_1",
        "id": "1-68910541-G-A",
        "variant": "1:68910541 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-68444858-G-A?dataset=gnomad_r3",
        "id": "1-68444858-G-A",
        "variant": "1:68444858 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-68444858-G-A?dataset=gnomad_r4",
        "id": "1-68444858-G-A",
        "variant": "1:68444858 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 68444858,
          "referenceAllele": "G",
          "start": 68444857
        }
      ],
      "hgvs": [
        "NC_000001.11:g.68444858G>A",
        "CM000663.2:g.68444858G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 68910541,
          "referenceAllele": "G",
          "start": 68910540
        }
      ],
      "hgvs": [
        "NC_000001.10:g.68910541G>A",
        "CM000663.1:g.68910541G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 68683129,
          "referenceAllele": "G",
          "start": 68683128
        }
      ],
      "hgvs": [
        "NC_000001.9:g.68683129G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10102,
          "referenceAllele": "C",
          "start": 10101
        }
      ],
      "hgvs": [
        "NG_008472.1:g.10102C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10102,
          "referenceAllele": "C",
          "start": 10101
        }
      ],
      "hgvs": [
        "NG_008472.2:g.10102C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673504"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 320,
          "referenceAllele": "C",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "ENST00000262340.6:c.271C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262340.5:p.Arg91Trp",
        "hgvsWellDefined": "ENSP00000262340.5:p.Arg91Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262340.6:c.271C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000329.3:c.271C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262340.5:p.Arg91Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000320.1:p.Arg91Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "referenceAllele": "C",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "ENST00000262340.5:c.271C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262340.5:p.Arg91Trp",
        "hgvsWellDefined": "ENSP00000262340.5:p.Arg91Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250991"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092070",
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "referenceAllele": "C",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NM_000329.2:c.271C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000320.1:p.Arg91Trp",
        "hgvsWellDefined": "NP_000320.1:p.Arg91Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "XM_017002027.1:c.-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857516.1:n.-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092070",
      "coordinates": [
        {
          "allele": "T",
          "end": 320,
          "referenceAllele": "C",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NM_000329.3:c.271C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000320.1:p.Arg91Trp",
        "hgvsWellDefined": "NP_000320.1:p.Arg91Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262340.6:c.271C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000329.3:c.271C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262340.5:p.Arg91Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000320.1:p.Arg91Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}