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
ENSP00000440520.1:p.[Gln414Ser;Asp416_Val421delinsThrGluProThrAla;Ser423_Asp425delinsLeuProMet;Val427_Ile428delinsProSer;Arg430_Ala434delinsAlaGluThrSerArg;Asp436delinsProThr;Leu438_Ile443delinsTrpLeuTrpThrGlySer]
CA10585427
ENST00000535915.5:c.1240del