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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526312.1:p.[Glu763_Phe775delinsGlyAspSerAspAsnValSerProSerAlaProArg;Cys777Pro;Gly779_Phe781delinsProGlyGly;Leu783_Arg788delinsProSerMetGluGlu;Lys790_Ile792delinsAlaAla]
CA16602349
XM_011528010.2:c.2287dup