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
ENSP00000440520.1:p.[Thr693del;Val695_Thr697delinsPro;His699_Arg703del;Val705_Val721del]
CA2573156039
ENST00000535915.5:c.2071_2075dup