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Canonical Allele Identifier: Get Identifier
Gene: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000487583.1:p.[Lys1955_Gln1958delinsArgArgAsnSerSerGly;Ala1961Lys;Arg1965_Ala1969delinsLysGluProLysAsp;Arg1971_Lys1973delinsLysArgSer;Val1975_Glu1977delinsAsnPro;Lys1979_Cys1980delinsVal]
CA689783879
ENST00000627620.2:c.5864del