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Canonical Allele Identifier: Get Identifier
Gene: EPM2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001346986.1:p.[Glu100delinsGlyAsn;Gly101_Asn102insProHisHisAspArgCysCysThrTyr;Asn102_Gly103insGluAsnAsnLeuValAsp;Gly103_Pro104insValTyrCysLeu;Pro104_His105insIleGly;His105_His106insTrpIleGluAlaThrGly;His106_Asp107insThrAsnGluMetLysHisThrThr;Asp107_Arg108insPheTyrPheAsnIleAlaGlyHisGlnAlaMetHisTyrSer;Arg108_Cys109insProSerThrAspAlaAlaProGlyGlyValProAlaAla;Cys109_Cys110insAlaAlaGlyGluGlyThrHisArgValArgAlaLeuGlnArgTrpGlyGlyProLeuHisArgGlyCysLeuArgLeuAlaProValCysAspGlyLeuGluSerGluGluGlyAlaValPheProHisGlyGlnGluAlaGlyCysLeuHisTerAspArg]