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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.[Thr1299_Arg1315delinsLysGlnMetProTrpVal;Leu1317_Ala1319delinsGlnAsn;Arg1321Glu;Leu1323_Ala1325delinsSerAsn;Arg1328delinsGlyHis]
CA2586965079
XM_011511603.1:c.3896del