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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.[Thr1288_Arg1304delinsLysGlnMetProTrpVal;Leu1306_Ala1308delinsGlnAsn;Arg1310Glu;Leu1312_Ala1314delinsSerAsn;Arg1317delinsGlyHis]
CA2586965079
NM_001353954.2:c.3863del