Allele Registry

Canonical Allele Identifier: PA2830347105

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000032980

RCV002225272

ClinVar Variation:

39761

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Met515Val	CA130531 NM_172108.3:c.1543A>G