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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000492917.1:p.[Thr1288_Arg1304delinsGlnGlnMetProTrpVal;Leu1306_Ala1308delinsGlnAsn;Arg1310Glu;Leu1312_Ala1314delinsSerAsn;Arg1317delinsGlyHis]
CA16042392
ENST00000641575.1:c.3862del