Allele Registry

Canonical Allele Identifier: PA2828886646

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV001983792

ClinVar Variation:

1490541

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369164.1:p.Val250Ala	CA409653915 NM_001382235.1:c.749T>C