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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.[Leu1315_Arg1317del;Glu1319_Ala1327delinsLeuAsp;Leu1329Lys;Ala1331_Phe1345del]
CA2586965064
ENST00000641575.1:c.3945del