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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.[Thr1272_Arg1288delinsGlnGlnMetProTrpVal;Leu1290_Ala1292delinsGlnAsn;Arg1294Glu;Leu1296_Ala1298delinsSerAsn;Arg1301delinsGlyHis]
CA16042392
NM_001165964.3:c.3814del