Allele Registry

Canonical Allele Identifier: PA2830346509

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000478609

RCV001563652

ClinVar Variation:

418726

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Cys169Phe	CA16620976 NM_172108.3:c.506G>T