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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000491573.1:p.[Leu1164_Phe1170delinsArg;Glu1172_Arg1177delinsArgSerLeu;Lys1179_Trp1194delinsHis]
CA2586965120
ENST00000640036.1:c.3491_3492del