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.Glu188_Glu217del
CA10585077
ENST00000535915.5:c.558_559insTGAG
CA2499225313
ENST00000535915.5:c.555_558dup