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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011509904.1:p.[Thr1300_Arg1316delinsLysGlnMetProTrpVal;Leu1318_Ala1320delinsGlnAsn;Arg1322Glu;Leu1324_Ala1326delinsSerAsn;Arg1329delinsGlyHis]
CA2586965079
XM_011511602.1:c.3899del