Allele Registry

Canonical Allele Identifier: PA2829530222

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000030664

RCV000678092

RCV001059860

RCV003441710

ClinVar Variation:

7389

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Ser247Trp	CA130021 NM_004518.5:c.740C>G