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        {
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          "end": 2544,
          "referenceAllele": "C",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "XR_001751149.1:n.2544C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2540,
          "referenceAllele": "C",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "XR_001751151.1:n.2540C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA130079",
      "coordinates": [
        {
          "allele": "T",
          "end": 2494,
          "referenceAllele": "C",
          "start": 2493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029170",
      "geneNCBI_id": 22909,
      "geneSymbol": "FAN1",
      "hgvs": [
        "NM_014967.5:c.2245C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055782.3:p.Arg749Ter",
        "hgvsWellDefined": "NP_055782.3:p.Arg749_Ser1017delinsAlaValArgLeuArgGluSerProSerCysLysLysPheLysHisLeuPheGlnGlnLeuProGluMetAlaValGlnAspValLysHisValThrIleThrGlyArgLeuCysProGlnArgGlyMetCysLysSerValPheValMetGluAlaGlyGluAlaAlaAspProThrThrValLeuCysSerValGluGluLeuAlaLeuAlaHisTyrArgArgSerGlyPheAspGlnGlyIleHisGlyGluGlySerThrPheSerThrLeuTyrGlyLeuLeuLeuTrpAspIleIlePheMetAspGlyIleProAspValPheArgAsnAlaCysGlnAlaPheProLeuAspLeuCysThrAspSerPhePheThrSerArgArgProAlaLeuGluAlaArgLeuGlnLeuIleHisAspAlaProGluGluSerLeuArgAlaTrpValAlaAlaThrTrpHisGluGlnGluGlyArgValAlaSerLeuValSerTrpAspArgPheThrSerLeuGlnGlnAlaGlnAspLeuValSerCysLeuGlyGlyProValLeuSerGlyValCysArgHisLeuAlaAlaAspPheArgHisCysArgGlyGlyLeuProAspLeuValValTrpAsnSerGlnSerArgHisPheLysLeuValGluValLysGlyProAsnAspArgLeuSerHisLysGlnMetIleTrpLeuAlaGluLeuGlnLysLeuGlyAlaGluValGluValCysHisValValAlaValGlyAlaLysSerGlnSerLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697406",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362065.9:c.2245C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014967.5:c.2245C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354497.4:p.Arg749Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055782.3:p.Arg749Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}