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      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.535C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Arg179Cys",
        "hgvsWellDefined": "NP_001350624.1:p.Arg179Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}