Allele Registry

Canonical Allele Identifier: PA645422388

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000484946

ClinVar Variation:

421323

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Ser314Pro	CA16620970 NM_172107.3:c.940T>C