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Canonical Allele Identifier: Get Identifier
Gene: EIF2B5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000414775.1:p.[Thr84_Thr91delinsLeuProGlnValTyrArgLysHisLeuSer;Phe94_Trp97delinsAlaGlyLysLeuLeu;Ala99_Gln101delinsSerLysAsn;Lys103_His105delinsTyrCysLysAla;Leu106_Leu107insGln;Leu107_Ter108insPhe]
CA2580070470
ENST00000432569.2:c.250del