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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526313.1:p.[Arg617del;Val619_Thr622delinsThrCys;Arg624_Leu625insHis;Gly627Ala;Thr629_Pro630delinsTrp;Leu632_Met640delinsHisProTrpAlaHisHisGlyGlyAsp;His642_Leu645delinsAspAsnValSerProSerSer]
CA2697556242
XM_011528011.1:c.1849dup