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.[Lys182_Cys195del;Pro197_Phe200delinsLeu;Cys202_Asp204del;Asn206_Cys207delinsGln;His209_Ser211del]
CA16602304
ENST00000535915.5:c.537_543dup