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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS538166"
    },
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          "endIntronDirection": "+",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551079"
    },
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      ],
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      "geneSymbol": "ABCG5",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011531328.1:p.Gln335_Arg561delinsPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1779,
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011531329.1:p.Gln254_Arg480delinsPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN013886",
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011531330.1:p.Gln146_Arg372delinsPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741978145",
      "coordinates": [
        {
          "allele": "T",
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          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
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      "hgvs": [
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        "hgvsWellDefined": "NP_071881.1:p.Gln425_Arg651delinsPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405322.8:c.1273C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022436.3:c.1273C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384513.2:p.Gln425Ter"
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          "RefSeq": {
            "hgvs": "NP_071881.1:p.Gln425Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "endIntronDirection": "-",
          "endIntronOffset": 3421,
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          "startIntronOffset": 3422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS719198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "endIntronDirection": "-",
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          "startIntronOffset": 3422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
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      "geneSymbol": "DYNC2LI1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001335842.1:n.*16-3422G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719199"
    }
  ],
  "type": "nucleotide"
}