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          "referenceAllele": "G",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_001362750.2:c.336G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349679.1:p.Trp112Cys",
        "hgvsWellDefined": "NP_001349679.1:p.Trp112Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690525"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_001161766.2:c.252G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155238.1:p.Trp84Cys",
        "hgvsWellDefined": "NP_001155238.1:p.Trp84Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713015"
    }
  ],
  "type": "nucleotide"
}