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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.[Ala442_Glu443delinsProAsn;Gln445_Ala465del;Glu467_Ser469del;Glu471del]
CA2499215205
ENST00000641575.1:c.1324del