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
XP_011526312.1:p.[Ile585del;Ser587_Gly592delinsGlnAlaSerMetSerThr;Asn594_Glu602delinsAlaThrGlyArgProSerTrpArgMet;Leu605_Phe609delinsGlyTrpProThrPro;Leu611_Phe614delinsProTrpProSer]
CA10585599
XM_011528010.2:c.1752del