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.[Asp180_Val192delinsAlaProThrAlaArgThrAsnLeuThrArgLysThr;Thr194_Arg196delinsLeuTrpPro;Asp198_Cys202delinsValAlaLeuThrAsn;Asp204_His209delinsSerAlaLeuMetGluThrAlaSerMet]
CA10585045
ENST00000535915.5:c.534_538dup