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.[Tyr147_Gln150delinsSerLys;Asp152_Ser154delinsThrValAla;Cys156_Ser157del;Phe159_Leu164delinsArgPro;Gly166_His170del;Trp173_Gly178delinsThrAla]
CA2497030121
NM_001195799.2:c.440_446del