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      "proteinEffect": {
        "hgvs": "NP_001280033.1:p.Arg167Ter",
        "hgvsWellDefined": "NP_001280033.1:p.Arg167_Thr461delinsGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822480",
      "coordinates": [
        {
          "allele": "T",
          "end": 771,
          "referenceAllele": "C",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.2:c.412C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280034.1:p.Arg138Ter",
        "hgvsWellDefined": "NP_001280034.1:p.Arg138_Thr432delinsGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1099,
          "referenceAllele": "C",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NR_120531.2:n.1099C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}