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
ENSP00000453513.2:p.[Gln415Ser;Asp417_Val422delinsThrGluProThrAla;Ser424_Asp426delinsLeuProMet;Val428_Ile429delinsProSer;Arg431_Ala435delinsAlaGluThrSerArg;Asp437delinsProThr;Leu439_Ile444delinsTrpLeuTrpThrGlySer]
CA10585427
ENST00000560467.2:c.1243del