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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Arg830del;Val832_Thr835delinsThrCys;Arg837_Leu838insHis;Gly840Ala;Thr842_Pro843delinsTrp;Leu845_Met853delinsHisProTrpAlaHisHisGlyGlyAsp;His855_Leu858delinsAspAsnValSerProSerSer]
CA2697556242
ENST00000252444.10:c.2488dup