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      ],
      "proteinEffect": {
        "hgvs": "NP_000316.2:p.Met207Val",
        "hgvsWellDefined": "NP_000316.2:p.Met207Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644743.1:c.619A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000325.6:c.619A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495061.1:p.Met207Val"
          },
          "RefSeq": {
            "hgvs": "NP_000316.2:p.Met207Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826271574",
      "coordinates": [
        {
          "allele": "G",
          "end": 1073,
          "referenceAllele": "A",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204397.2:c.598A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191326.1:p.Met200Val",
        "hgvsWellDefined": "NP_001191326.1:p.Met200Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS781738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830327821",
      "coordinates": [
        {
          "allele": "G",
          "end": 839,
          "referenceAllele": "A",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.3:c.598A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:p.Met200Val",
        "hgvsWellDefined": "NP_700475.1:p.Met200Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830328035",
      "coordinates": [
        {
          "allele": "G",
          "end": 701,
          "referenceAllele": "A",
          "start": 700
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      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.3:c.460A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:p.Met154Val",
        "hgvsWellDefined": "NP_700476.1:p.Met154Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS784314"
    }
  ],
  "type": "nucleotide"
}