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_001182728.1:p.[Ile120Gly;Gln122_Asp134delinsAlaThrThrThrProThrAlaLysMetAlaArgMetSer;Gly135_Ser136insArg;Asp137_Arg142delinsAlaValGlyValPheThr;Arg144_Gln150delinsSerLys;Asp152_Ser153delinsThr]
CA2697556252
NM_001195799.2:c.357_369del