Allele Registry

Canonical Allele Identifier: PA340478

Gene: EIF2B5 HGNC NCBI

ClinVar RCV:

RCV000006311

RCV003221413

ClinVar Variation:

5947

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Val309Leu	CA340477 NM_003907.3:c.925G>C