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      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_000325.6:c.784_785del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000316.2:p.Ser262ArgfsTer19",
        "hgvsWellDefined": "NP_000316.2:p.[Ser262_Pro267delinsArgGlyAlaAsp;Pro270_Arg281delinsLeuSerLeuArgAlaAla;Thr283_Asn285del;Leu288_Ser290delinsValCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644743.1:c.784_785del"
          },
          "RefSeq": {
            "hgvs": "NM_000325.6:c.784_785del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495061.1:p.Ser262ArgfsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_000316.2:p.Ser262ArgfsTer19"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1239,
          "referenceAllele": "TC",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204397.2:c.763_764del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191326.1:p.Ser255ArgfsTer19",
        "hgvsWellDefined": "NP_001191326.1:p.[Ser255_Pro260delinsArgGlyAlaAsp;Pro263_Arg274delinsLeuSerLeuArgAlaAla;Thr276_Asn278del;Leu281_Ser283delinsValCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781738"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1005,
          "referenceAllele": "TC",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.3:c.763_764del"
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:p.Ser255ArgfsTer19",
        "hgvsWellDefined": "NP_700475.1:p.[Ser255_Pro260delinsArgGlyAlaAsp;Pro263_Arg274delinsLeuSerLeuArgAlaAla;Thr276_Asn278del;Leu281_Ser283delinsValCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784313"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 867,
          "referenceAllele": "TC",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.3:c.625_626del"
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:p.Ser209ArgfsTer19",
        "hgvsWellDefined": "NP_700476.1:p.[Ser209_Pro214delinsArgGlyAlaAsp;Pro217_Arg228delinsLeuSerLeuArgAlaAla;Thr230_Asn232del;Leu235_Ser237delinsValCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784314"
    }
  ],
  "type": "nucleotide"
}