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"proteinEffect": { "hgvs": "NP_001230178.1:p.Gln361Ter", "hgvsWellDefined": "NP_001230178.1:p.Gln361_Pro544delinsGluThrGlnLeuIleGlnMetValValTrpMetLeuGlnArgArgLeuLeuIleGlnLeuHisThrTyrValCysLeuMetAlaSerProSerGluGluGluProArgProArgGluAspAspValProPheThrAlaArgValGlyGlyArgSerLeuSerThrProAsnAlaLeuSerPheGlySerProThrSerSerAspAspMetThrLeuThrSerProSerMetAspAsnSerSerAlaGluLeuLeuProSerGlyAspSerProLeuAsnGlnArgMetThrGluAsnLeuLeuAlaSerLeuSerGluHisGluArgAlaAlaIleLeuSerValProAlaAlaGlnAsnProGluAspLeuArgMetPheAlaArgLeuLeuHisTyrPheArgGlyArgHisHisLeuGluGluIleMetTyrAsnGluAsnThrArgArgSerGlnLeuLeuMetLeuPheAspLysPheArgSerValLeuValValThrThrHisGluAspProValIleAlaValPheGlnAlaLeuLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714460" } ], "type": "nucleotide" }