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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.[Leu1175_Phe1181delinsArg;Glu1183_Arg1188delinsArgSerLeu;Lys1190_Trp1205delinsHis]
CA2586965120
ENST00000641603.1:c.3524_3525del