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_001182727.1:p.[Asp227_Glu229delinsGluArgThr;Cys231_Ala234delinsLeuThrArgLys;Cys236_Arg237delinsAlaLeuTrp;Asp239_Cys243delinsProValAlaLeuThrAsn;Asp245_Gly251delinsSerAlaLeuMetGluThrAla;Arg253_Asp256delinsMetAlaAlaGlySerValThr]
CA2573050581
NM_001195798.2:c.667_680dup