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.[Ile142_Cys145del;Thr147_Cys150del;Asp152_His159del;Cys161_Cys170delinsArg]
CA10576289
ENST00000455727.6:c.404_422dup