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      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_001161766.2:c.-56-6313G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155238.1:n.-56-6313G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713015"
    }
  ],
  "type": "nucleotide"
}