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) Matching Registered Transcripts
XP_006719619.1:p.[Thr1703_Gly1706delinsAsnLeuSer;Asp1708Leu;Leu1710_Leu1712delinsTrp;Ile1714_Arg1717delinsAlaAlaAlaHis;Pro1719_Asp1724del;Glu1726_His1727delinsProPro;Gly1729_Phe1732del]
CA2036193324
XM_006719556.4:c.5107dup