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      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001042351.3:c.949G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035810.1:p.Glu317Lys",
        "hgvsWellDefined": "NP_001035810.1:p.Glu317Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676000"
    }
  ],
  "type": "nucleotide"
}