Allele Registry

Canonical Allele Identifier: PA2828284287

Gene: EPM2A HGNC NCBI

ClinVar RCV:

RCV000003246

RCV001851604

ClinVar Variation:

3100

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355059.1:p.Arg108Cys	CA252543 NM_001368130.1:c.322C>T