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Canonical Allele Identifier: Get Identifier
Gene: EPM2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000356489.3:p.[Trp99_Glu100insGlyAsnGlyProHisHisAspArgCysCysThrTyrAsn;Glu100_Gly101insAsnAsnLeuValAsp;Gly101_Asn102insValTyrCysLeuProIleGlyHisTrpIleGluAlaThrGlyHisThr;Asn102_Gly103insGluMetLysHisThrThrAspPheTyrPheAsnIleAla;Gly103_Pro104insHisGlnAlaMetHisTyrSerArgIleLeu;Pro104_His105insAsnIleTrpLeuGlySerCysProArgGlnValGlu;His105_His106insValThrIleLysLeuLys;His106_Asp107insGluLeuGlyIleThrAlaValMetAsnPheGlnThrGluTrp;Asp107_Arg108insIleValGlnAsnSerSerGlyCysAsn;Arg108_Cys109insTyrProGluProMetThrProAspThrMetIleLysLeuTyrArgGluGluGlyLeuAlaTyrIleTrpMetProThrProAspMetSerThrGluGlyArgValGlnMetLeuProGlnAlaVal;Cys109_Cys110insLeuLeuHisAlaLeuLeuGluLysGlyHisIleValTyrValHisCysAsnAlaGlyValGlyArgSerThrAlaAlaValCysGlyTrpLeuGlnTyrValMetGlyTrpAsnLeuArgLysValGlnTyrPheLeuMetAlaLysArgProAlaValTyrIleAspGluGluAlaLeuAlaArgAlaGlnGluAspPhePheGlnLysPheGlyLysValArgSerSerValCysSerLeuTerAspArg]