Allele Registry

Canonical Allele Identifier: PA315473

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187915

RCV000462637

RCV000678188

RCV001003634

RCV001374917

RCV002514018

RCV003315322

ClinVar Variation:

205915

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Arg560Trp	CA315471 NM_172107.3:c.1678C>T