{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA002924",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=69903[alleleid]",
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        "preferredName": "NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/55236",
        "RCV": [
          "RCV000048603",
          "RCV000077578",
          "RCV000162879",
          "RCV000496846",
          "RCV000235132"
        ],
        "variationId": 55236
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41226420C>A?assembly=hg19",
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      }
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        "@id": "http://myvariant.info/v1/variant/chr17:g.43074403C>A?assembly=hg38",
        "id": "chr17:g.43074403C>A"
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    },
    {
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    },
    {
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        {
          "allele": "T",
          "end": 4898,
          "referenceAllele": "G",
          "start": 4897
        }
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      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.4666G>T"
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        "hgvsWellDefined": "NP_009231.2:p.Glu1557_Tyr1884delinsGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4739,
          "referenceAllele": "G",
          "start": 4738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.4739G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA187137",
      "coordinates": [
        {
          "allele": "T",
          "end": 4716,
          "referenceAllele": "G",
          "start": 4715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.4603G>T"
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      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Glu1535Ter",
        "hgvsWellDefined": "NP_009225.1:p.Glu1536_Tyr1863delinsGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.4603G>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.4603G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Glu1535Ter"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Glu1535Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829695032",
      "coordinates": [
        {
          "allele": "T",
          "end": 4656,
          "referenceAllele": "G",
          "start": 4655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.4462G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Glu1488Ter",
        "hgvsWellDefined": "NP_009228.2:p.Glu1489_Tyr1816delinsGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915993315",
      "coordinates": [
        {
          "allele": "T",
          "end": 1398,
          "referenceAllele": "G",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.1291G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Glu431Ter",
        "hgvsWellDefined": "NP_009230.2:p.Glu432_Val699delinsGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrGlyCysProProAsnCysGlyCysAlaAlaArgCysLeuAspArgGlyGlnTrpLeuProCysAsnTrpAlaAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829706485",
      "coordinates": [
        {
          "allele": "T",
          "end": 4779,
          "referenceAllele": "G",
          "start": 4778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.4666G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Glu1556Ter",
        "hgvsWellDefined": "NP_009231.2:p.Glu1557_Tyr1884delinsGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4780,
          "referenceAllele": "G",
          "start": 4779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.4780G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}