Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: KCNQ2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Ser483Arg	CA409645788 NM_004518.5:c.1449C>G CA409645795 NM_004518.5:c.1449C>A CA409645815 NM_004518.5:c.1447A>C