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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538146"
    },
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      ],
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        "hgvsWellDefined": "XP_016859639.1:p.Trp63_Leu170delinsTyrLysValLeuAspArgPheIleProGlyThrThrLysValAspAlaLeuLysLysMetLeuLeuAspGlnGlyGlyPheAlaProCysPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS559732"
    },
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        "hgvsWellDefined": "XP_016859640.1:p.Trp53_Leu160delinsTyrLysValLeuAspArgPheIleProGlyThrThrLysValAspAlaLeuLysLysMetLeuLeuAspGlnGlyGlyPheAlaProCysPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559733"
    },
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      "geneSymbol": "MPV17",
      "hgvs": [
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        "hgvsWellDefined": "XP_016859641.1:p.Trp16_Leu123delinsTyrLysValLeuAspArgPheIleProGlyThrThrLysValAspAlaLeuLysLysMetLeuLeuAspGlnGlyGlyPheAlaProCysPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559734"
    },
    {
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      "gene": "http://reg.genome.network/gene/GN007224",
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      "hgvs": [
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        "hgvsWellDefined": "XP_024308681.1:p.Trp53_Leu160delinsTyrLysValLeuAspArgPheIleProGlyThrThrLysValAspAlaLeuLysLysMetLeuLeuAspGlnGlyGlyPheAlaProCysPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342972",
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
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        "hgvsWellDefined": "NP_002428.1:p.Trp69_Leu176delinsTyrLysValLeuAspArgPheIleProGlyThrThrLysValAspAlaLeuLysLysMetLeuLeuAspGlnGlyGlyPheAlaProCysPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380044.6:c.206G>A"
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          "RefSeq": {
            "hgvs": "NM_002437.5:c.206G>A"
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          "Ensembl": {
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          }
        }
      }
    }
  ],
  "type": "nucleotide"
}