Allele Registry

Canonical Allele Identifier: PA2829530242

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV001983792

ClinVar Variation:

1490541

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Val250Ala	CA409653915 NM_004518.5:c.749T>C