Allele Registry

Canonical Allele Identifier: PA2828058335

Gene: EPM2A HGNC NCBI

ClinVar RCV:

RCV000187406

RCV000528451

RCV000765870

RCV001263351

RCV002381628

RCV003927738

ClinVar Variation:

205444

HGVS (amino-acid)	Matching Registered Transcripts
NP_001346986.1:p.Ala46Thr	CA314520 NM_001360057.2:c.136G>A