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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.[Glu1047_Glu1050delinsGlyCysMet;Lys1052_His1059delinsArgArgProThrValSerProIle;Gly1061_Gly1076delinsProValGlnThrSerThrGlyMetValThrSerArgArgMetAlaMetAla]
CA645574764
ENST00000599343.5:c.3140del