Allele Registry

Canonical Allele Identifier: PA916047128

Gene: EPM2A HGNC NCBI

ClinVar RCV:

RCV000556253

RCV001563435

ClinVar Variation:

462933

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355061.1:p.Val95Leu	CA366190434 NM_001368132.1:c.283G>T CA366190435 NM_001368132.1:c.283G>C