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Canonical Allele Identifier: Get Identifier
Gene: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.[Arg1930delinsHisThr;Gln1931_Lys1932insAsp;Lys1932_Glu1933insLysArgSer;Glu1933_Val1934insAsnProSer;Arg1935_Glu1936insGly;Ser1937Gln;Cys1939delinsPheSerIleIleGlnIle]
CA2795967146
NM_001177984.2:c.5787_5788insCACACCCA