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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.[Pro1739_Ser1741delinsThrGln;Phe1743_Ser1751delinsValAlaLeuArgGluIle;Ile1754_Val1758delinsThrProGlnTrpAla;Tyr1760_Ile1763delinsSer;Phe1765del;Ile1767_Val1768del]
CA947652693
ENST00000599343.5:c.5213_5214dup