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.[Ser99_Cys109del;Pro111_Asp112del;Phe114_Glu131del]
CA10584831
NM_001195803.2:c.296_297del