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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.[Leu501_Arg502delinsGlnAsp;Leu504_Leu513delinsLysSer;Arg515_Phe516del;Gly518_Ala525delinsThrSerLysSer;Leu527_Ala529delinsIleSer;Pro531del]
CA916082229
NM_001353961.2:c.1502_1503del