Allele Registry

Canonical Allele Identifier: PA2828284179

Gene: EPM2A HGNC NCBI

ClinVar RCV:

RCV000686981

ClinVar Variation:

567018

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355059.1:p.Trp32Arg	CA366188420 NM_001368130.1:c.94T>C CA366188422 NM_001368130.1:c.94T>A