Allele Registry

Canonical Allele Identifier: PA916062466

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000179033

RCV000193491

RCV001235310

ClinVar Variation:

197892

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Thr234Ile	CA207014 NM_172109.3:c.701C>T