Allele Registry

Canonical Allele Identifier: PA2828284299

Gene: EPM2A HGNC NCBI

ClinVar RCV:

RCV000153197

RCV000232652

RCV000626888

RCV001704109

RCV002345488

RCV003927479

ClinVar Variation:

167038

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355059.1:p.Ile126Val	CA295611 NM_001368130.1:c.376A>G