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Canonical Allele Identifier: Get Identifier
Gene: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_006719619.1:p.[Pro1728_Ser1730delinsThrGln;Phe1732_Ser1740delinsValAlaLeuArgGluIle;Ile1743_Val1747delinsThrProGlnTrpAla;Tyr1749_Ile1752delinsSer;Phe1754del;Ile1756_Val1757del]
CA947652693
XM_006719556.4:c.5180_5181dup