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.[Leu631_Phe633delinsProArg;Cys635Pro;Gly637_Phe639delinsProGlyGly;Leu641_Arg646delinsProSerMetGluGlu;Lys648_Tyr660delinsAlaAla]
CA2580096309
NM_001195800.2:c.1891dup