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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Glu763_Met767delinsGlyAsp;His769_Gly773del;Val775_Gly779del;Glu781_Lys783delinsValSer;Val787Gly;Ala789_Ile792delinsArgCysTrpGlnArgLys]
CA16602349
ENST00000557933.5:c.2287dup