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_000518.1:p.[Gln455Ser;Asp457_Val462delinsThrGluProThrAla;Ser464_Asp466delinsLeuProMet;Val468_Ile469delinsProSer;Arg471_Ala475delinsAlaGluThrSerArg;Asp477delinsProThr;Leu479_Ile484delinsTrpLeuTrpThrGlySer]
CA10585427
NM_000527.5:c.1363del