Allele Registry

Canonical Allele Identifier: PA916024145

Gene: EIF2B4 HGNC NCBI

ClinVar RCV:

RCV000482195

RCV001782965

RCV003492070

ClinVar Variation:

420062

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305897.1:p.Pro48Leu	CA1576800 NM_001318968.2:c.143C>T