Allele Registry

Canonical Allele Identifier: PA645454703

Gene: EIF2B5 HGNC NCBI

ClinVar RCV:

RCV000483052

RCV000763510

ClinVar Variation:

420049

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Ile649Thr	CA16617857 NM_003907.3:c.1946T>C