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      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350751.2:c.3758C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337680.1:p.Ser1253Leu",
        "hgvsWellDefined": "NP_001337680.1:p.Ser1253Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688477"
    }
  ],
  "type": "nucleotide"
}