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.[Cys513_Leu514insSer;Ala516_Asn520delinsArgArgSerThr;His522_Ser523delinsThrArg;Lys525_Cys528delinsSerLeuPro;Cys530del;Asp532_Leu536delinsAlaArgThr;Arg538_Cys543delinsCysCysTrpProGlyThr]
CA2830773956
ENST00000455727.6:c.1540del