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
ENSP00000440520.1:p.[Asp186del;Glu188_Cys190delinsAspLysSer;Val192_Ala193delinsArgLys;Cys195_Arg196delinsAlaLeuTrp;Asp198_Cys202delinsProValAlaLeuThrAsn;Asp204_Gly210delinsSerAlaLeuMetGluThrAla;Arg212_Asp215delinsMetAlaAlaGlySerValThr]
CA2695223214
ENST00000535915.5:c.557_558insGGACAAATCTG