HGVS (amino-acid) | Transcript change |
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ENSP00000516511.1:p.[Tyr63delinsAlaGluCysGlyLeuArgIleLeuAlaPheProCysAsnGlnPheGlyLysGlnGluProGlySerAsnGluGluIleLysGluPheAlaAlaGlyTyrAsnValLysPheAspMetPheSerLysIleCysValAsnGlyAspAspAlaHisProLeuTrpLysTrpMetLysIleGlnProLysGlyLysGlyIleLeuGlyLysThrAlaTrpGlyLeuTrpGlyAlaAlaGlyAspAlaHisValHisValLeuLeuPheGlnCysHisGlnValGluLeuHisGlnValProHisArgGlnGluArgLeuArgGlyGluAlaLeuArgThrHisGlyGlyAlaProGlyAspArgGluGlyProAlaProLeuPheLeuAlaProGlnValCysGlyProAlaArgAlaProAlaHisAlaLeuGlyAlaPheHisArgHisSerTer;Arg215del] |