Allele Registry

Canonical Allele Identifier: PA130530

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000032979

RCV000187867

RCV000698323

RCV000763452

RCV002354177

ClinVar Variation:

39760

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Arg213Gln	CA130528 NM_172107.3:c.638G>A