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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_024447451.1:c.1498G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303219.1:p.Gly500Ter",
        "hgvsWellDefined": "XP_024303219.1:p.Gly501_Val558delinsHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 519,
          "referenceAllele": "C",
          "start": 518
        }
      ],
      "hgvs": [
        "XR_001746847.1:n.519C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645402746",
      "coordinates": [
        {
          "allele": "T",
          "end": 1760,
          "referenceAllele": "G",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_000136.3:c.1498G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000127.2:p.Gly500Ter",
        "hgvsWellDefined": "NP_000127.2:p.Gly501_Val558delinsHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674720",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289081.8:c.1498G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000136.3:c.1498G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289081.3:p.Gly500Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000127.2:p.Gly500Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916006593",
      "coordinates": [
        {
          "allele": "T",
          "end": 1702,
          "referenceAllele": "G",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243743.2:c.1498G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230672.1:p.Gly500Ter",
        "hgvsWellDefined": "NP_001230672.1:p.Gly501_Val558delinsHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714504"
    }
  ],
  "type": "nucleotide"
}