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
ENSP00000453696.2:p.[Leu456_Val462delinsProThrAlaSerLeuProMetThrPro;Tyr465_Asp466delinsAlaGlu;Val468_Ile469del;Asp472_Ala475delinsPro;Asp477Thr;Leu479_Ile488delinsTrpLeuTrpThrGlySerThrAlaThrSer]
CA10585430
ENST00000559340.2:c.1367_1376del