Allele Registry

Canonical Allele Identifier: PA112594

Gene: EIF2B5 HGNC NCBI

ClinVar RCV:

RCV000006314

RCV001070077

RCV003221416

ClinVar Variation:

5950

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Arg315His	CA340481 NM_003907.3:c.944G>A