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Canonical Allele Identifier: Get Identifier
Gene: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000476447.3:p.[Gln1878_Ser1890delinsSerArgTrpLysSerGlySerTrpHisProIleLeuPro;Val1892delinsCysLeuThr;Tyr1894_Glu1895delinsGlnSerGln;Ile1897_Leu1901delinsHisCysValAlaSer;Lys1904_Glu1907del]
CA2573053704
ENST00000599343.5:c.5631del