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
ENSP00000252444.6:p.[Asp133_Asp140delinsValPro;Ser142_Cys149delinsTrp;Ser151_Arg167del]
CA658653854
ENST00000252444.10:c.398_411del