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: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011509901.1:p.[Pro1992_Glu2000delinsAlaAsnCys;Asp2003_Lys2009delinsThr]
CA2843327991
XM_011511599.1:c.5972dup