Allele Registry

Canonical Allele Identifier: PA112751

Gene: EIF2B5 HGNC NCBI

ClinVar RCV:

RCV001972751

ClinVar Variation:

1457929

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Val430Ala	CA2726634 NM_003907.3:c.1289T>C