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
ENSP00000252444.6:p.[Gln541Ser;Asp543_Val548delinsThrGluProThrAla;Ser550_Asp552delinsLeuProMet;Val554_Ile555delinsProSer;Arg557_Ala561delinsAlaGluThrSerArg;Asp563delinsProThr;Leu565_Ile570delinsTrpLeuTrpThrGlySer]
CA10585427
ENST00000252444.10:c.1621del