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
ENSP00000453557.1:p.[Tyr375_Cys377delinsTrpLeu;Cys379_Asp386delinsVal;His388_Ala394del;Gly396_Phe403del]
CA10576299
ENST00000557933.5:c.1118_1121dup