Allele Registry

Canonical Allele Identifier: PA2828058737

Gene: EPM2A HGNC NCBI

ClinVar RCV:

RCV000556253

RCV001563435

ClinVar Variation:

462933

HGVS (amino-acid)	Matching Registered Transcripts
NP_001347000.1:p.Val111Leu	CA366190434 NM_001360071.2:c.331G>T CA366190435 NM_001360071.2:c.331G>C