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Canonical Allele Identifier: Get Identifier
Gene: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.[Glu1962_Glu1963insLys;Gly1964_Arg1966delinsGluGlyLys;Arg1968_Ala1969delinsProLysAsp;Arg1971_Lys1973delinsLysArgSer;Glu1974_Val1975insAsnProSer;Arg1976_Glu1977insGly;Ser1978Gln;Cys1980delinsPheSerIleIleGlnIle]
CA689783942
NM_001330260.2:c.5887del