Allele Registry

Canonical Allele Identifier: PA2830347427

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000020987

RCV000082686

RCV000860235

RCV001703418

RCV001730475

RCV002311522

RCV003315299

ClinVar Variation:

21779

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Asn749Thr	CA285799 NM_172108.3:c.2246A>C