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      "proteinEffect": {
        "hgvs": "NP_001338430.1:p.Tyr182Ter",
        "hgvsWellDefined": "NP_001338430.1:p.Tyr182_Tyr329delinsSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827613980",
      "coordinates": [
        {
          "allele": "G",
          "end": 1503,
          "referenceAllele": "T",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351502.2:c.546T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338431.1:p.Tyr182Ter",
        "hgvsWellDefined": "NP_001338431.1:p.Tyr182_Tyr329delinsSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688854"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 995,
          "endIntronDirection": "-",
          "endIntronOffset": 1943,
          "referenceAllele": "T",
          "start": 995,
          "startIntronDirection": "-",
          "startIntronOffset": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NR_147213.2:n.996-1944T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1065,
          "referenceAllele": "T",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NR_147214.2:n.1065T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704539"
    }
  ],
  "type": "nucleotide"
}