Allele Registry

Canonical Allele Identifier: PA916062597

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187883

RCV000203604

RCV000417034

RCV000473067

RCV001265545

RCV002281568

RCV003315318

ClinVar Variation:

205886

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Ala294Val	CA278571 NM_172109.3:c.881C>T