Allele Registry

Canonical Allele Identifier: PA3057638147

Gene: EIF2B5 HGNC NCBI

ClinVar RCV:

RCV005332432

ClinVar Variation:

3844085

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Glu198Lys	CA2726425 NM_003907.3:c.592G>A