{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA273290",
  "communityStandardTitle": [
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5450699",
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        "id": "COSM5450699"
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5450700",
        "active": true,
        "id": "COSM5450700"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5450701",
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      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/166516",
        "RCV": [
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          "RCV003453141",
          "RCV003474803"
        ],
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      }
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      "referenceSequence": "http://reg.genome.network/refseq/RS255872"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266105"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2928,
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        }
      ],
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS045339"
    },
    {
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS673266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829689374",
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_009054.6:p.Cys847_Val1546delinsAsnCysAspLysThrGlyThrIleAsnGlySerLeuLeuCysAsnLysSerThrGlyGlnCysProCysLysLeuGlyValThrGlyLeuArgCysAsnGlnCysGluProHisArgTyrAsnLeuThrIleAspAsnPheGlnHisCysGlnMetCysGluCysAspSerLeuGlyThrLeuProGlyThrIleCysAspProIleSerGlyGlnCysLeuCysValProAsnArgGlnGlyArgArgCysAsnGlnCysGlnProGlyPheTyrIleSerProGlyAsnAlaThrGlyCysLeuProCysSerCysHisThrThrGlyAlaValAsnHisIleCysAsnSerLeuThrGlyGlnCysValCysGlnAspAlaSerIleAlaGlyGlnArgCysAspGlnCysLysAspHisTyrPheGlyPheAspProGlnThrGlyArgCysGlnProCysAsnCysHisLeuSerGlyAlaLeuAsnGluThrCysHisLeuValThrGlyGlnCysPheCysLysGlnPheValThrGlySerLysCysAspAlaCysValProSerAlaSerHisLeuAspValAsnAsnLeuLeuGlyCysSerLysThrProPheGlnGlnProProProArgGlyGlnValGlnSerSerSerAlaIleAsnLeuSerTrpSerProProAspSerProAsnAlaHisTrpLeuThrTyrSerLeuLeuArgAspGlyPheGluIleTyrThrThrGluAspGlnTyrProTyrSerIleGlnTyrPheLeuAspThrAspLeuLeuProTyrThrLysTyrSerTyrTyrIleGluThrThrAsnValHisGlySerThrArgSerValAlaValThrTyrLysThrLysProGlyValProGluGlyAsnLeuThrLeuSerTyrIleIleProIleGlySerAspSerValThrLeuThrTrpThrThrLeuSerAsnGlnSerGlyProIleGluLysTyrIleLeuSerCysAlaProLeuAlaGlyGlyGlnProCysValSerTyrGluGlyHisGluThrSerAlaThrIleTrpAsnLeuValProPheAlaLysTyrAspPheSerValGlnAlaCysThrSerGlyGlyCysLeuHisSerLeuProIleThrValThrThrAlaGlnAlaProProGlnArgLeuSerProProLysMetGlnLysIleSerSerThrGluLeuHisValGluTrpSerProProAlaGluLeuAsnGlyIleIleIleArgTyrGluLeuTyrMetArgArgLeuArgSerThrLysGluThrThrSerGluGluSerArgValPheGlnSerSerGlyTrpLeuSerProHisSerPheValGluSerAlaAsnGluAsnAlaLeuLysProProGlnThrMetThrThrIleThrGlyLeuGluProTyrThrLysTyrGluPheArgValLeuAlaValAsnMetAlaGlySerValSerSerAlaTrpValSerGluArgThrGlyGluSerAlaProValPheMetIleProProSerValPheProLeuSerSerTyrSerLeuAsnIleSerTrpGluLysProAlaAspAsnValThrArgGlyLysValValGlyTyrAspIleAsnMetLeuSerGluGlnSerProGlnGlnSerIleProMetAlaPheSerGlnLeuLeuHisThrAlaLysSerGlnGluLeuSerTyrThrValGluGlyLeuLysProTyrArgIleTyrGluPheThrIleThrLeuCysAsnSerValGlyCysValThrSerAlaSerGlyAlaGlyGlnThrLeuAlaAlaAlaProAlaGlnLeuArgProProLeuValLysGlyIleAsnSerThrThrIleHisLeuArgTrpPheProProGluGluLeuAsnGlyProSerProIleTyrGlnLeuGluArgArgGluSerSerLeuProAlaLeuMetThrThrMetMetLysGlyIleArgPheIleGlyAsnGlyTyrCysLysPheProSerSerThrHisProValAsnThrAspPheThrGlyLysCysValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696915"
    },
    {
      "coordinates": [
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          "allele": "A",
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        }
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS701702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.2541C>A"
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          "RefSeq": {
            "hgvs": "NM_206933.4:c.2541C>A"
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        "protein": {
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          "RefSeq": {
            "hgvs": "NP_996816.3:p.Cys847Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}