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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.[Gly1868_Ser1870delinsGluIleAla;Glu1872_Ser1890delinsSerTrpThrSerCysGlySerArgTrpLysSerGlySerTrpHisProIleLeuPro;Val1892_Ile1897delinsCysLeuThrSerGlnSer]
CA2580086587
ENST00000599343.5:c.5603del