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_001182729.1:p.[Asp188_Asp192delinsValSerValArgIle;Asp194del;Cys196_Leu217delinsProAlaAlaSerSerAla]
CA10585288
NM_001195800.2:c.563del