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      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NM_001272003.2:c.1477C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258932.1:p.Arg493="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681247"
    }
  ],
  "type": "nucleotide"
}