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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011509908.1:p.[Thr1272_Arg1288delinsLysGlnMetProTrpVal;Leu1290_Ala1292delinsGlnAsn;Arg1294Glu;Leu1296_Ala1298delinsSerAsn;Arg1301delinsGlyHis]
CA2586965079
XM_011511606.1:c.3815del