Allele Registry

Canonical Allele Identifier: PA240404

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000724023

RCV000765493

RCV000781975

RCV001240137

RCV001527628

RCV002317007

RCV003315309

ClinVar Variation:

194446

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Val543Met	CA240402 NM_172107.3:c.1627G>A