Allele Registry

Canonical Allele Identifier: PA112508

Gene: EIF2B5 HGNC NCBI

ClinVar RCV:

RCV000853414

RCV001377730

ClinVar Variation:

692118

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Arg113Cys	CA2726376 NM_003907.3:c.337C>T