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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159436.1:p.[Ser1204_Ala1206delinsMetVal;Ala1208_Asp1211delinsTrpHisLeuLys;Asp1215_Val1230delinsLeuIleSerGluArgArgLeuArgArgCysTrpAsnMetLeuThrArg;Thr1232_Tyr1233delinsSerLeuThr]
CA2661757826
NM_001165964.3:c.3611del