Allele Registry

Canonical Allele Identifier: PA2825325531

Gene: EPM2A HGNC NCBI

ClinVar RCV:

RCV000003245

RCV000675700

RCV003746498

ClinVar Variation:

3099

HGVS (amino-acid)	Matching Registered Transcripts
NP_001018051.1:p.Gly279Ser	CA252542 NM_001018041.2:c.835G>A