Allele Registry

Canonical Allele Identifier: PA093757

Gene: EIF2B2 HGNC NCBI

ClinVar RCV:

RCV003221402

ClinVar Variation:

4339

HGVS (amino-acid)	Matching Registered Transcripts
NP_055054.1:p.Ser171Phe	CA116772 NM_014239.4:c.512C>T