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Canonical Allele Identifier: Get Identifier
Gene: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440360.1:p.[Ala1864_Arg1866delinsSerCysSerValProThr;His1868_Arg1872delinsAspIleTrpGlnGly;Phe1874_Lys1877delinsAlaSerSerAla;Thr1879_Thr1880delinsArgGlnLeuLeuIle;Asn1882_Leu1884delinsTrpArgMet;Asn1886_Gly1888delinsAlaHis;His1890Gly;Glu1892del]
CA2618842275
ENST00000545061.5:c.5578_5588dup