{
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  "@id": "http://reg.genome.network/allele/CA394186426",
  "communityStandardTitle": [
    "NM_001287.6(CLCN7):c.1806C>G (p.Tyr602Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1248383",
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        "preferredName": "NM_001287.6(CLCN7):c.1806C>G (p.Tyr602Ter)"
      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3233378",
        "RCV": [
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        "variationId": 3233378
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        "@id": "http://myvariant.info/v1/variant/chr16:g.1448758G>C?assembly=hg38",
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  ],
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          "start": 1869
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      "referenceSequence": "http://reg.genome.network/refseq/RS250987"
    },
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          "start": 2411
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273840"
    },
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        "hgvsWellDefined": "ENSP00000410907.1:p.Tyr578_Thr781delinsAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299775"
    },
    {
      "coordinates": [
        {
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        }
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      "referenceSequence": "http://reg.genome.network/refseq/RS377558"
    },
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS378533"
    },
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    },
    {
      "@id": "http://reg.genome.network/allele/PA2825571421",
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          "allele": "G",
          "end": 1844,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001107803.1:p.Tyr578_Thr781delinsAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011317"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826744020",
      "coordinates": [
        {
          "allele": "G",
          "end": 1916,
          "referenceAllele": "C",
          "start": 1915
        }
      ],
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      "geneSymbol": "CLCN7",
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        "hgvsWellDefined": "NP_001278.1:p.Tyr602_Thr805delinsAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1998,
          "referenceAllele": "C",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "XM_011522354.1:c.1632C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520656.1:p.Tyr544Ter",
        "hgvsWellDefined": "XP_011520656.1:p.Tyr544_Thr747delinsAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826744020",
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        {
          "allele": "G",
          "end": 1860,
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664229",
      "MANE": {
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      "@id": "http://reg.genome.network/allele/PA2825571421",
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          "allele": "G",
          "end": 1788,
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          "start": 1787
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      ],
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        "hgvsWellDefined": "NP_001107803.1:p.Tyr578_Thr781delinsAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712124"
    }
  ],
  "type": "nucleotide"
}