Allele Registry

Canonical Allele Identifier: PA2830347173

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000992226

RCV001046813

ClinVar Variation:

804957

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Arg550Pro	CA409643394 NM_172108.3:c.1649G>C