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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011509905.1:p.[Ser1231_Ala1233delinsMetVal;Ala1235_Asp1238delinsTrpHisLeuLys;Asp1242_Val1257delinsLeuIleSerGluArgArgLeuArgArgCysTrpAsnMetLeuThrArg;Thr1259_Tyr1260delinsSerLeuThr]
CA2661757826
XM_011511603.1:c.3692del