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_000518.1:p.[Asp227_Ala232delinsAlaArgLysThrAlaLeuTrpProPro;Thr235_His250delinsLeuThrAsnSerSerAlaLeuMetGluThrAlaSerMetAlaAla;Arg253_Asp256delinsValThr]
CA2497030129
NM_000527.5:c.680del