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  "communityStandardTitle": [
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      "proteinEffect": {
        "hgvs": "XP_011530332.1:p.Gln125Ter",
        "hgvsWellDefined": "XP_011530332.1:p.Gln125_Val688delinsValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123163",
      "coordinates": [
        {
          "allele": "T",
          "end": 1312,
          "referenceAllele": "C",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NM_000297.4:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000288.1:p.Gln405Ter",
        "hgvsWellDefined": "NP_000288.1:p.Gln405_Val968delinsValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237596.7:c.1213C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000297.4:c.1213C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237596.2:p.Gln405Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000288.1:p.Gln405Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1312,
          "referenceAllele": "C",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NR_156488.2:n.1312C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704972"
    }
  ],
  "type": "nucleotide"
}