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: SCN2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
XP_005246807.1:p.Arg188Trp
XM_005246750.2:c.562C>T