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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000509637.1:p.Glu181_Gly210delinsLysIleLeuLeuSerPheGlyIleHisGlyThrGlySerIleSerLeuSerLeuHisLeuArgThrSerGlnSerLeuTrpThrTrpAla
CA2499215208
ENST00000689288.1:c.541del