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Canonical Allele Identifier: Get Identifier
Gene: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000499691.1:p.[Pro1687_Ser1689delinsThrGln;Phe1691_Ser1699delinsValAlaLeuArgGluIle;Ile1702_Val1706delinsThrProGlnTrpAla;Tyr1708_Ile1711delinsSer;Phe1713del;Ile1715_Val1716del]
CA947652693
ENST00000668547.1:c.5057_5058dup