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Canonical Allele Identifier: Get Identifier
Gene: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.[Gln1826_Ser1838delinsSerArgTrpLysSerGlySerTrpHisProIleLeuPro;Val1840delinsCysLeuThr;Tyr1842_Glu1843delinsGlnSerGln;Ile1845_Leu1849delinsHisCysValAlaSer;Lys1852_Glu1855del]
CA2573053704
NM_001369788.1:c.5475del