Allele Registry

Canonical Allele Identifier: PA645422048

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678138

ClinVar Variation:

369761

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Ala253Thr	CA10654818 NM_172107.3:c.757G>A