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      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.6:c.38G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Gly13Ala",
        "hgvsWellDefined": "NP_000271.1:p.Gly13Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781557"
    }
  ],
  "type": "nucleotide"
}