Allele Registry

Canonical Allele Identifier: PA1139711281

Gene: EIF2B5 HGNC NCBI

ClinVar RCV:

RCV001220962

ClinVar Variation:

949493

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Glu487Lys	CA88843584 NM_003907.3:c.1459G>A