Allele Registry

Canonical Allele Identifier: PA2828284181

Gene: EPM2A HGNC NCBI

ClinVar RCV:

RCV000003253

RCV000494425

RCV002512695

ClinVar Variation:

3107

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355059.1:p.Trp32Gly	CA252549 NM_001368130.1:c.94T>G