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Canonical Allele Identifier: Get Identifier
Gene: EIF2B5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000497097.1:p.[Gln232_Val238delinsArgAlaValValMet;Val240Trp;Tyr242Phe;Leu244_His248delinsMetIleTyrTrpIleVal;Ile251_Gln255delinsAlaSerValLeuLeu;Arg257Asp;Phe259_Met261delinsValLeuProCys]
CA2545515282
ENST00000649688.1:c.694del