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.[Asp186del;Glu188_Cys190delinsArgLysThr;Val192_Arg196delinsLeuTrpPro;Asp198_Cys202delinsValAlaLeuThrAsn;Asp204_Gly210delinsSerAlaLeuMetGluThrAla;Arg212_Arg216delinsMetAlaAlaGlySerValThr]
CA16602311
NM_001195799.2:c.558del