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.[Leu758_Val759insGly;Leu761_Val765delinsAlaTrpGlySerSer;Leu767_Asn778delinsTyrGlyArgThrGlyGlyLeuArgThrSerThrAla;Ile780_Asn784delinsThrLeuThrThr;Val786_Thr790delinsSerIleArgArg]
CA10585853
NM_001195799.2:c.2276_2280delinsGGGT