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      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.2:c.1033T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:p.Ter345Arg",
        "hgvsWellDefined": "NP_001288111.1:p.Leu344_Ter345insArgGluGluProThrThrLeuGlnProHisProAspAlaProPheTrpIleIleLeuGlyAlaAlaValArgLeuCysAlaGlyGlnArgAlaProSerSer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683373"
    }
  ],
  "type": "nucleotide"
}