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_001182727.1:p.[Thr454_Gln455delinsProSer;Asp457_Val462delinsThrGluProThrAla;Ser464_Asp466delinsLeuProMet;Val468_Ile469delinsProSer;Arg471_Ala475delinsAlaGluThrSerArg;Asp477delinsProThr;Leu479_Trp483delinsTrpLeuTrpThrGly]
CA2695228175
NM_001195798.2:c.1360del