Allele Registry

Canonical Allele Identifier: PA112644

Gene: EIF2B5 HGNC NCBI

ClinVar RCV:

RCV003221419

ClinVar Variation:

40178

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Asp270His	CA343821 NM_003907.3:c.808G>C