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
ENSP00000252444.6:p.[Asp279_Ser281delinsAla;Cys283_Ser284del;Phe286_Leu291delinsArgPro;Gly293_His297del;Trp300_Asp310delinsThrAla]
CA10584994
ENST00000252444.10:c.836_842del