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            "hgvs": "NM_000325.6:c.418T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495061.1:p.Phe140Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000316.2:p.Phe140Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826271554",
      "coordinates": [
        {
          "allele": "C",
          "end": 872,
          "referenceAllele": "T",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204397.2:c.397T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191326.1:p.Phe133Leu",
        "hgvsWellDefined": "NP_001191326.1:p.Phe133Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830327766",
      "coordinates": [
        {
          "allele": "C",
          "end": 638,
          "referenceAllele": "T",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.3:c.397T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:p.Phe133Leu",
        "hgvsWellDefined": "NP_700475.1:p.Phe133Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580529650",
      "coordinates": [
        {
          "allele": "C",
          "end": 500,
          "referenceAllele": "T",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.3:c.259T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:p.Phe87Leu",
        "hgvsWellDefined": "NP_700476.1:p.Phe87Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784314"
    }
  ],
  "type": "nucleotide"
}