Allele Registry

Canonical Allele Identifier: PA916062508

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000585840

RCV001867902

ClinVar Variation:

495248

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.His260Tyr	CA409653453 NM_172109.3:c.778C>T