Allele Registry

Canonical Allele Identifier: PA295612

Gene: EPM2A HGNC NCBI

ClinVar RCV:

RCV000153197

RCV000232652

RCV000626888

RCV001704109

RCV002345488

RCV003927479

ClinVar Variation:

167038

HGVS (amino-acid)	Matching Registered Transcripts
NP_005661.1:p.Ile126Val	CA295611 NM_005670.4:c.376A>G