Allele Registry

Canonical Allele Identifier: PA147791

Gene: EIF2B5 HGNC NCBI

ClinVar RCV:

RCV000080353

RCV000313724

RCV000711607

RCV001474918

ClinVar Variation:

94381

1138547

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Ile587Val	CA147790 NM_003907.3:c.1759A>G CA2499216607 NM_003907.3:c.1758_1759delinsTG