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      "referenceSequence": "http://reg.genome.network/refseq/RS559734"
    },
    {
      "coordinates": [
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          "allele": "T",
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      "hgvs": [
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        "hgvsWellDefined": "XP_024308681.1:p.Gln28_Leu160delinsGluHisGlnArgGlyArgThrLeuThrMetValSerLeuGlyCysGlyPheValGlyProValValGlyGlyTrpTyrLysValLeuAspArgPheIleProGlyThrThrLysValAspAlaLeuLysLysMetLeuLeuAspGlnGlyGlyPheAlaProCysPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915990776",
      "coordinates": [
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          "allele": "T",
          "end": 181,
          "referenceAllele": "C",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "NM_002437.5:c.130C>T"
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      "proteinEffect": {
        "hgvs": "NP_002428.1:p.Gln44Ter",
        "hgvsWellDefined": "NP_002428.1:p.Gln44_Leu176delinsGluHisGlnArgGlyArgThrLeuThrMetValSerLeuGlyCysGlyPheValGlyProValValGlyGlyTrpTyrLysValLeuAspArgPheIleProGlyThrThrLysValAspAlaLeuLysLysMetLeuLeuAspGlnGlyGlyPheAlaProCysPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000380044.6:c.130C>T"
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          "RefSeq": {
            "hgvs": "NM_002437.5:c.130C>T"
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        "protein": {
          "Ensembl": {
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          "RefSeq": {
            "hgvs": "NP_002428.1:p.Gln44Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}