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  "@id": "http://reg.genome.network/allele/CA3003958",
  "communityStandardTitle": [
    "NM_000297.4(PKD2):c.1521G>A (p.Trp507Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2203553",
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      "proteinEffect": {
        "hgvs": "XP_011530330.1:p.Trp432Ter",
        "hgvsWellDefined": "XP_011530330.1:p.Trp432_Val893delinsAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550657"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532030.2:c.681G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530332.1:p.Trp227Ter",
        "hgvsWellDefined": "XP_011530332.1:p.Trp227_Val688delinsAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580112762",
      "coordinates": [
        {
          "allele": "A",
          "end": 1620,
          "referenceAllele": "G",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NM_000297.4:c.1521G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000288.1:p.Trp507Ter",
        "hgvsWellDefined": "NP_000288.1:p.Trp507_Val968delinsAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237596.7:c.1521G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000297.4:c.1521G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237596.2:p.Trp507Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000288.1:p.Trp507Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1620,
          "referenceAllele": "G",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NR_156488.2:n.1620G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704972"
    }
  ],
  "type": "nucleotide"
}