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
ENSP00000397829.2:p.[Tyr297_Asp298delinsMet;Val300_Ile301delinsProSer;Arg303_Ala307delinsAlaGluThrSerArg;Asp309_Asp314delinsProThrGlyTrpLeu;Ile316_His317delinsThrGly;Asn319_Trp322delinsThrAlaThrSer;Asp324_Val326delinsGlyProThrLeu]
CA10585436
ENST00000455727.6:c.888del