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.[Asp561_His567delinsArgGlyTrpProThrProSer;Phe569delinsTrpPro;Ala572_Asp576delinsArgThr;Val578Tyr;Trp580_Asp582delinsGlyGln;Ile584_Ile588delinsSerSerThrLysPro;Ala591_Asn592delinsValPro]
CA2582475120
ENST00000560467.2:c.1680_1686del