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      "referenceSequence": "http://reg.genome.network/refseq/RS555568"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557917"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS582088"
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA057127",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_064632.2:p.Arg348_Gln647delinsMetLysGlyGlyArgGluValAlaMetLysIleGlnTyrProGlyValAlaGlnSerIleAsnSerAspValAsnAsnLeuMetAlaValLeuAsnMetSerAsnMetLeuProGluGlyLeuPheProGluHisLeuIleAspValLeuArgArgGluLeuAlaLeuGluCysAspTyrGlnArgGluAlaAlaCysAlaArgLysPheArgAspLeuLeuLysGlyHisProPhePheTyrValProGluIleValAspGluLeuCysSerProHisValLeuThrThrGluLeuValSerGlyPheProLeuAspGlnAlaGluGlyLeuSerGlnGluIleArgAsnGluIleCysTyrAsnIleLeuValLeuCysLeuArgGluLeuPheGluPheHisPheMetGlnThrAspProAsnTrpSerAsnPhePheTyrAspProGlnGlnHisLysValAlaLeuLeuAspPheGlyAlaThrArgGluTyrAspArgSerPheThrAspLeuTyrIleGlnIleIleArgAlaAlaAlaAspArgAspArgGluThrValArgAlaLysSerIleGluMetLysPheLeuThrGlyTyrGluValLysValMetGluAspAlaHisLeuAspAlaIleLeuIleLeuGlyGluAlaPheAlaSerAspGluProPheAspPheGlyThrGlnSerThrThrGluLysIleHisAsnLeuIleProValMetLeuArgHisArgLeuValProProProGluGluThrTyrSerLeuHisArgLysMetGlyGlySerPheLeuIleCysSerLysLeuLysAlaArgPheProCysLysAlaMetPheGluGluAlaTyrSerAsnTyrCysLysArgGlnAlaGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669946",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366777.4:c.1042C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020247.5:c.1042C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355739.3:p.Arg348Ter"
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          "RefSeq": {
            "hgvs": "NP_064632.2:p.Arg348Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}