Allele Registry

Canonical Allele Identifier: PA130536

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000032981

RCV000498787

RCV000678147

ClinVar Variation:

39762

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Gly290Asp	CA130534 NM_172107.3:c.869G>A