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
ENSP00000454071.1:p.[Asp601_His607delinsArgGlyTrpProThrProSer;Phe609delinsTrpPro;Ala612_Asp616delinsArgThr;Val618Tyr;Trp620_Asp622delinsGlyGln;Ile624_Ile628delinsSerSerThrLysPro;Ala631_Asn632delinsValPro]
CA2582475120
ENST00000558518.6:c.1800_1806del