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Canonical Allele Identifier: Get Identifier
Gene: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000487583.1:p.[Gly1857_Ser1859delinsGluIleAla;Glu1861_Ser1879delinsSerTrpThrSerCysGlySerArgTrpLysSerGlySerTrpHisProIleLeuPro;Val1881_Ile1886delinsCysLeuThrSerGlnSer]
CA2580086587
ENST00000627620.2:c.5570del