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: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000346534.4:p.Arg530Trp
ENST00000354534.11:c.1588C>T