Allele Registry

Canonical Allele Identifier: PA2830347168

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000480958

RCV000678193

RCV001850942

RCV003315343

ClinVar Variation:

369807

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Met547Val	CA10654781 NM_172108.3:c.1639A>G