Allele Registry

Canonical Allele Identifier: PA1139711334

Gene: EIF2B5 HGNC NCBI

ClinVar RCV:

RCV001219682

ClinVar Variation:

948428

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Trp628Cys	CA355393997 NM_003907.3:c.1884G>C CA355394001 NM_003907.3:c.1884G>T