Allele Registry

Canonical Allele Identifier: PA2828886676

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV002274438

ClinVar Variation:

1700189

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369164.1:p.Trp269Cys	CA409653355 NM_001382235.1:c.807G>T CA409653357 NM_001382235.1:c.807G>C