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_001182732.1:p.[Asp229_Asp233delinsValSerValArgIle;Asp235del;Cys237_Leu258delinsProAlaAlaSerSerAla]
CA10585288
NM_001195803.2:c.686del