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.[Leu415_Val421delinsProThrAlaSerLeuProMetThrPro;Tyr424_Asp425delinsAlaGlu;Val427_Ile428del;Asp431_Ala434delinsPro;Asp436Thr;Leu438_Ile447delinsTrpLeuTrpThrGlySerThrAlaThrSer]
CA10585430
NM_001195799.2:c.1244_1253del