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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.[Thr1714_Gly1717delinsAsnLeuSer;Asp1719Leu;Leu1721_Leu1723delinsTrp;Ile1725_Arg1728delinsAlaAlaAlaHis;Pro1730_Asp1735del;Glu1737_His1738delinsProPro;Gly1740_Phe1743del]
CA2036193324
ENST00000599343.5:c.5140dup