Allele Registry

Canonical Allele Identifier: PA2830347171

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000255557

RCV000678196

RCV001222134

ClinVar Variation:

265380

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Arg550Gly	CA10588704 NM_172108.3:c.1648C>G