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
NP_001182728.1:p.[Glu72_Asp77delinsValGlySerAlaSerLeu;Lys79_Arg83delinsSerSerSerValThr;Phe85_Ala100delinsThrGlyThrAlaTrpThrAlaGlnThrArgProProAlaArgCys;Cys102del;Val104_Thr106del]
CA10584860
NM_001195799.2:c.215_230del