Allele Registry

Canonical Allele Identifier: PA112691

Gene: EIF2B5 HGNC NCBI

ClinVar RCV:

RCV003221410

ClinVar Variation:

5944

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Gly386Val	CA340475 NM_003907.3:c.1157G>T