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
ENSP00000499636.1:p.[Arg1971delinsHisThr;Gln1972_Lys1973insAsp;Lys1973_Glu1974insLysArgSer;Glu1974_Val1975insAsnProSer;Arg1976_Glu1977insGly;Ser1978Gln;Cys1980delinsPheSerIleIleGlnIle]
CA2795967146
ENST00000662684.1:c.5910_5911insCACACCCA