Allele Registry

Canonical Allele Identifier: PA1139750914

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187879

RCV000636293

RCV000678101

RCV003315224

RCV003315305

ClinVar Variation:

21809

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Arg333Trp	CA315400 NM_172109.3:c.997C>T