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          "end": 885,
          "referenceAllele": "G",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204397.2:c.410G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191326.1:p.Arg137Pro",
        "hgvsWellDefined": "NP_001191326.1:p.Arg137Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830327795",
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.3:c.410G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:p.Arg137Pro",
        "hgvsWellDefined": "NP_700475.1:p.Arg137Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119286",
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.3:c.272G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:p.Arg91Pro",
        "hgvsWellDefined": "NP_700476.1:p.Arg91Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784314"
    }
  ],
  "type": "nucleotide"
}