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      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001042351.3:c.544C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035810.1:p.Arg182Trp",
        "hgvsWellDefined": "NP_001035810.1:p.Arg182Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676000"
    }
  ],
  "type": "nucleotide"
}