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.[Asp303_Glu315delinsGluThrAlaLeuTrpProProValAlaLeuThr;Cys317_Val319delinsSerSer;Thr321_Asp325delinsLeuMet;Phe327_Cys329delinsThrAla;Asp331_His336delinsMetAlaAla;Arg339_Tyr345delinsValThrGlyAsn]
CA10585041
ENST00000252444.10:c.909_945del