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.[Tyr536_Ile545delinsThrGlyLeuThrProAsnPheThrPro;Ser547_Gly552delinsGlnAlaSerMetSerThr;Asn554_Glu562delinsAlaThrGlyArgProSerTrpArgMet;Leu565delinsGlyTrp]
CA2497030087
ENST00000560467.2:c.1606del