This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Thr67_Phe73delinsAspValLeuProGly;Cys75_Ser82delinsValSerLeuPro;Gln84_Phe85delinsTrpGlu;Cys87_Asp88delinsHisLeu;Asp90_Cys93delinsAlaValArg;Asp95del]
CA10584853
NM_001195799.2:c.197dup