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            "hgvs": "NM_000325.6:c.417G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495061.1:p.Trp139Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000316.2:p.Trp139Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826271553",
      "coordinates": [
        {
          "allele": "T",
          "end": 871,
          "referenceAllele": "G",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204397.2:c.396G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191326.1:p.Trp132Cys",
        "hgvsWellDefined": "NP_001191326.1:p.Trp132Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830327762",
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.3:c.396G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:p.Trp132Cys",
        "hgvsWellDefined": "NP_700475.1:p.Trp132Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580529649",
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "G",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.3:c.258G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:p.Trp86Cys",
        "hgvsWellDefined": "NP_700476.1:p.Trp86Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784314"
    }
  ],
  "type": "nucleotide"
}