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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.[Thr1289_Arg1305delinsGlnGlnMetProTrpVal;Leu1307_Ala1309delinsGlnAsn;Arg1311Glu;Leu1313_Ala1315delinsSerAsn;Arg1318delinsGlyHis]
CA16042392
ENST00000640036.1:c.3865del