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          "referenceAllele": "C",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XR_944524.1:n.1489C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1489,
          "referenceAllele": "C",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XR_944525.1:n.1489C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1444,
          "referenceAllele": "C",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XR_001748674.2:n.1444C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596643"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485627",
      "coordinates": [
        {
          "allele": "T",
          "end": 1429,
          "referenceAllele": "C",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "NM_013254.4:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037386.1:p.Arg444Ter",
        "hgvsWellDefined": "NP_037386.1:p.Arg444_Leu729delinsTrpLeuIleGluLeuIleLysAspAspTyrAsnGluThrValHisLysLysThrGluValValIleThrLeuAspPheCysIleArgAsnIleGluLysThrValLysValTyrGluLysLeuMetLysIleAsnLeuGluAlaAlaGluLeuGlyGluIleSerAspIleHisThrLysLeuLeuArgLeuSerSerSerGlnGlyThrIleGluThrSerLeuGlnAspIleAspSerArgLeuSerProGlyGlySerLeuAlaAspAlaTrpAlaHisGlnGluGlyThrHisProLysAspArgAsnValGluLysLeuGlnValLeuLeuAsnCysMetThrGluIleTyrTyrGlnPheLysLysAspLysAlaGluArgArgLeuAlaTyrAsnGluGluGlnIleHisLysPheAspLysGlnLysLeuTyrTyrHisAlaThrLysAlaMetThrHisPheThrAspGluCysValLysLysTyrGluAlaPheLeuAsnLysSerGluGluTrpIleArgLysMetLeuHisLeuArgLysGlnLeuLeuSerLeuThrAsnGlnCysPheAspIleGluGluGluValSerLysTyrGlnGluTyrThrAsnGluLeuGlnGluThrLeuProGlnLysMetPheThrAlaSerSerGlyIleLysHisThrMetThrProIleTyrProSerSerAsnThrLeuValGluMetThrLeuGlyMetLysLysLeuLysGluGluMetGluGlyValValLysGluLeuAlaGluAsnAsnHisIleLeuGluArgPheGlySerLeuThrMetAspGlyGlyLeuArgAsnValAspCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331710.10:c.1330C>T"
          },
          "RefSeq": {
            "hgvs": "NM_013254.4:c.1330C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329967.5:p.Arg444Ter"
          },
          "RefSeq": {
            "hgvs": "NP_037386.1:p.Arg444Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}