Allele Registry

Canonical Allele Identifier: PA1139739463

Gene: EPM2A HGNC NCBI

ClinVar RCV:

RCV001213399

ClinVar Variation:

943249

HGVS (amino-acid)	Matching Registered Transcripts
NP_001346986.1:p.Pro160Arg	CA366190483 NM_001360057.2:c.479C>G