Allele Registry

Canonical Allele Identifier: PA645422541

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV001227228

RCV001696895

ClinVar Variation:

424483

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Arg432His	CA9958511 NM_172107.3:c.1295G>A