Allele Registry

Canonical Allele Identifier: PA112611

Gene: EIF2B5 HGNC NCBI

ClinVar RCV:

RCV000853417

RCV001593061

ClinVar Variation:

692119

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Arg339Pro	CA88842892 NM_003907.3:c.1016G>C