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Canonical Allele Identifier: Get Identifier
Gene: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011536953.1:p.[Glu1870_Ser1879delinsLysSerGlySerTrpHisProIleLeuPro;Val1881delinsCysLeuThr;Tyr1883_Glu1884delinsGlnSerGln;Ile1886_Leu1890delinsHisCysValAlaSer;Lys1893_Glu1896delinsArgTyrLeuGln;Ser1898_Ala1899del;Val1901del]
CA2697559274
XM_011538651.3:c.5608del