Allele Registry

Canonical Allele Identifier: PA2830347347

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000529314

RCV001564307

RCV003338650

ClinVar Variation:

461414

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Arg694Cys	CA9958136 NM_172108.3:c.2080C>T