Allele Registry

Canonical Allele Identifier: PA2499265094

Gene: EIF2B5 HGNC NCBI

ClinVar RCV:

RCV001577488

RCV001827511

RCV003883470

ClinVar Variation:

1208981

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Pro427Leu	CA2726631 NM_003907.3:c.1280C>T