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
ENSP00000487583.1:p.[Lys1957_Arg1960delinsThrThrAla;Glu1962_Glu1963delinsGlyArg;Arg1966_Ala1969delinsLysLysGly;Arg1971Ser;Glu1974_Val1975delinsThrLys;Glu1977_Cys1980delinsGlyGlnArgIleGlnValLeu]
CA236327948
ENST00000627620.2:c.5869_5870insC