{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA002769",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=979730",
        "active": true,
        "id": "COSM979730"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4870621",
        "active": true,
        "id": "COSM4870621"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32714[alleleid]",
        "alleleId": 32714,
        "preferredName": "NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17675",
        "RCV": [
          "RCV000019244",
          "RCV000048523",
          "RCV000131880",
          "RCV000159989",
          "RCV000235131",
          "RCV000239083",
          "RCV000763000",
          "RCV000735445",
          "RCV001353404"
        ],
        "variationId": 17675
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-41234451-G-A",
        "id": "17-41234451-G-A",
        "variant": "17:41234451 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41234451G>A?assembly=hg19",
        "id": "chr17:g.41234451G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43082434G>A?assembly=hg38",
        "id": "chr17:g.43082434G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/41293455",
        "rs": 41293455
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41234451-G-A?dataset=gnomad_r2_1",
        "id": "17-41234451-G-A",
        "variant": "17:41234451 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43082434-G-A?dataset=gnomad_r3",
        "id": "17-43082434-G-A",
        "variant": "17:43082434 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43082434-G-A?dataset=gnomad_r4",
        "id": "17-43082434-G-A",
        "variant": "17:43082434 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 43082434,
          "referenceAllele": "G",
          "start": 43082433
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      ],
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41234451,
          "referenceAllele": "G",
          "start": 41234450
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      ],
      "hgvs": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38487977,
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          "start": 38487976
        }
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      "hgvs": [
        "NC_000017.9:g.38487977G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135550,
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        "LRG_292:g.135550C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
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  "transcriptAlleles": [
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      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
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      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
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      "coordinates": [
        {
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN001100",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1109,
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      "gene": "http://reg.genome.network/gene/GN001100",
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      "hgvs": [
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        {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "geneNCBI_id": 672,
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      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 7912,
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      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829694555",
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        {
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          "referenceAllele": "C",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
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        {
          "allele": "T",
          "end": 1037,
          "referenceAllele": "C",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
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      "@id": "http://reg.genome.network/allele/PA645510014",
      "coordinates": [
        {
          "allele": "T",
          "end": 1212,
          "referenceAllele": "C",
          "start": 1211
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      ],
      "gene": "http://reg.genome.network/gene/GN001100",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645443733",
      "coordinates": [
        {
          "allele": "T",
          "end": 4559,
          "referenceAllele": "C",
          "start": 4558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4463,
          "referenceAllele": "C",
          "start": 4462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.4463C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA168844",
      "coordinates": [
        {
          "allele": "T",
          "end": 4440,
          "referenceAllele": "C",
          "start": 4439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_009225.1:p.Arg1443_Tyr1863delinsAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.4327C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.4327C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Arg1443Ter"
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          "RefSeq": {
            "hgvs": "NP_009225.1:p.Arg1443Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829694555",
      "coordinates": [
        {
          "allele": "T",
          "end": 4380,
          "referenceAllele": "C",
          "start": 4379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.4186C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_009228.2:p.Arg1396_Tyr1816delinsAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645510014",
      "coordinates": [
        {
          "allele": "T",
          "end": 1125,
          "referenceAllele": "C",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.1018C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Arg340Ter",
        "hgvsWellDefined": "NP_009230.2:p.Arg340_Val699delinsAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrGlyCysProProAsnCysGlyCysAlaAlaArgCysLeuAspArgGlyGlnTrpLeuProCysAsnTrpAlaAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645443733",
      "coordinates": [
        {
          "allele": "T",
          "end": 4440,
          "referenceAllele": "C",
          "start": 4439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.4327C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Arg1443Ter",
        "hgvsWellDefined": "NP_009231.2:p.Arg1443_Tyr1884delinsAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4504,
          "referenceAllele": "C",
          "start": 4503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.4504C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}