Allele Registry

Canonical Allele Identifier: PA112721

Gene: EIF2B5 HGNC NCBI

ClinVar Allele:

801606

ClinVar RCV:

RCV001004169

RCV001390107

ClinVar Variation:

813359

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Ser447Leu	CA88843451 NM_003907.3:c.1340C>T