Allele Registry

Canonical Allele Identifier: PA112547

Gene: EIF2B5 HGNC NCBI

ClinVar RCV:

RCV001212143

RCV002471047

RCV003389333

RCV004526089

ClinVar Variation:

942204

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Arg269Gln	CA88840904 NM_003907.3:c.806G>A