Allele Registry

Canonical Allele Identifier: PA112525

Gene: EIF2B5 HGNC NCBI

ClinVar RCV:

RCV002512827

RCV003221414

ClinVar Variation:

5948

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Arg195Cys	CA117879 NM_003907.3:c.583C>T