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
ENSP00000397829.2:p.[Tyr207_Cys209delinsTrpLeu;Cys211_Asp218delinsVal;His220_Ala226del;Gly228_Phe235del]
CA10576299
ENST00000455727.6:c.614_617dup