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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159436.1:p.[Leu1639_Leu1642del;Asn1644_Gly1646del;Leu1648_Phe1650delinsArgCys;Val1652_Tyr1656delinsThrSer;Ile1658_Met1661del;Asn1663_Ala1665del;Val1667_Lys1668delinsSerSer]
CA2499215172
NM_001165964.3:c.4915del