Allele Registry

Canonical Allele Identifier: PA315352

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187851

RCV000678078

RCV000692591

RCV000763058

RCV001270883

RCV002510564

ClinVar Variation:

21787

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Ser122Leu	CA315351 NM_172107.3:c.365C>T