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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Arg576del;Val578_Thr581delinsThrCys;Arg583_Leu584insHis;Gly586Ala;Thr588_Pro589delinsTrp;Leu591_Met599delinsHisProTrpAlaHisHisGlyGlyAsp;His601_Leu604delinsAspAsnValSerProSerSer]
CA2697556242
ENST00000455727.6:c.1726dup