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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000492945.1:p.[Ile943delinsAspCys;Phe945Pro;Val947_Cys949delinsAlaValTrp;Glu951_Val971delinsValAspArgAspHisValGlyLeuTyrGlyGlyCysTrpSerSerHisValProTyrCysLeu]
CA2586970541
ENST00000641603.1:c.2825dup