Allele Registry

Canonical Allele Identifier: PA2830345119

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000992226

RCV001046813

ClinVar Variation:

804957

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Arg563Pro	CA409643394 NM_172106.3:c.1688G>C