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.[Thr694del;Val696_Thr698delinsPro;His700_Arg704del;Val706_Val722del]
CA2573156039
ENST00000560467.2:c.2074_2078dup