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Canonical Allele Identifier: Get Identifier
Gene: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440360.1:p.[Lys1914_Gln1917delinsArgArgAsnSerSerGly;Ala1920Lys;Arg1924_Ala1928delinsLysGluProLysAsp;Arg1930_Lys1932delinsLysArgSer;Glu1933_Val1934insAsnProSer;Glu1936_Cys1939delinsGlyGluGln]
CA689783879
ENST00000545061.5:c.5741del