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          "end": 3177,
          "referenceAllele": "G",
          "start": 3176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003767",
      "geneNCBI_id": 2324,
      "geneSymbol": "FLT4",
      "hgvs": [
        "NM_182925.5:c.3122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_891555.2:p.Arg1041Gln",
        "hgvsWellDefined": "NP_891555.2:p.Arg1041Gln"
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      "referenceSequence": "http://reg.genome.network/refseq/RS673034",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261937.11:c.3122G>A"
          },
          "RefSeq": {
            "hgvs": "NM_182925.5:c.3122G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261937.6:p.Arg1041Gln"
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          "RefSeq": {
            "hgvs": "NP_891555.2:p.Arg1041Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828042110",
      "coordinates": [
        {
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          "end": 3177,
          "referenceAllele": "G",
          "start": 3176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003767",
      "geneNCBI_id": 2324,
      "geneSymbol": "FLT4",
      "hgvs": [
        "NM_001354989.2:c.3122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341918.1:p.Arg1041Gln",
        "hgvsWellDefined": "NP_001341918.1:p.Arg1041Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829345732",
      "coordinates": [
        {
          "allele": "A",
          "end": 3177,
          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003767",
      "geneNCBI_id": 2324,
      "geneSymbol": "FLT4",
      "hgvs": [
        "NM_002020.5:c.3122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002011.2:p.Arg1041Gln",
        "hgvsWellDefined": "NP_002011.2:p.Arg1041Gln"
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      "referenceSequence": "http://reg.genome.network/refseq/RS695432"
    }
  ],
  "type": "nucleotide"
}