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      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.3:c.251G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:p.Arg84Pro",
        "hgvsWellDefined": "NP_700475.1:p.Arg84Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784313"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.3:c.113G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:p.Arg38Pro",
        "hgvsWellDefined": "NP_700476.1:p.Arg38Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784314"
    }
  ],
  "type": "nucleotide"
}