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Canonical Allele Identifier: Get Identifier
Gene: EIF2B5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000497887.1:p.[Leu243_His246delinsTrpArgPheAspMet;Ser248delinsTyrTrp;Cys250delinsValIle;Pro252_Gln253delinsAlaSer;Ala255_Gln256delinsLeu;Phe258_Asp260delinsArgTrpHis;Phe262_Gln265delinsSerLeuGlnThr;Arg267_Val271delinsLeuThrThrLysLeuGluMetThrLeuCys]
CA2668796685
ENST00000648630.1:c.706_725dup