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      "hgvs": [
        "NM_001204397.2:c.340A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191326.1:p.Thr114Ala",
        "hgvsWellDefined": "NP_001191326.1:p.Thr114Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 581,
          "referenceAllele": "A",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.3:c.340A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:p.Thr114Ala",
        "hgvsWellDefined": "NP_700475.1:p.Thr114Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 443,
          "referenceAllele": "A",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.3:c.202A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:p.Thr68Ala",
        "hgvsWellDefined": "NP_700476.1:p.Thr68Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784314"
    }
  ],
  "type": "nucleotide"
}