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      "proteinEffect": {
        "hgvs": "NP_001165903.1:p.Glu56Ter",
        "hgvsWellDefined": "NP_001165903.1:p.Glu56_Val374delinsValThrAlaGluArgLeuSerProGluGlnLeuGluGluValArgGluAlaThrArgArgGluThrHisIleLeuArgGlnValAlaGlyHisProHisIleIleThrLeuIleAspSerTyrGluSerSerSerPheMetPheLeuValPheAspLeuMetArgLysGlyGluLeuPheAspTyrLeuThrGluLysValAlaLeuSerGluLysGluThrArgSerIleMetArgSerLeuLeuGluAlaValSerPheLeuHisAlaAsnAsnIleValHisArgAspLeuLysProGluAsnIleLeuLeuAspAspAsnMetGlnIleArgLeuSerAspPheGlyPheSerCysHisLeuGluProGlyGluLysLeuArgGluLeuCysGlyThrProGlyTyrLeuAlaProGluIleLeuLysCysSerMetAspGluThrHisProGlyTyrGlyLysGluValAspLeuTrpAlaCysGlyValIleLeuPheThrLeuLeuAlaGlySerProProPheTrpHisArgArgGlnIleLeuMetLeuArgMetIleMetGluGlyGlnTyrGlnPheSerSerProGluTrpAspAspArgSerSerThrValLysAspLeuIleSerArgLeuLeuGlnValAspProGluAlaArgLeuThrAlaGluGlnAlaLeuGlnHisProPhePheGluArgCysGluGlySerGlnProTrpAsnLeuThrProArgGlnArgPheArgValAlaValTrpThrValLeuAlaAlaGlyArgValAlaLeuSerThrHisArgValArgProLeuThrLysAsnAlaLeuLeuArgAspProTyrAlaLeuArgSerValArgHisLeuIleAspAsnCysAlaPheArgLeuTyrGlyHisTrpIleArgLysGlnTrpIleGlyLysLeuMetAlaCysValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713426"
    }
  ],
  "type": "nucleotide"
}