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.[Gly273_Thr274insPro;Glu276_Glu296delinsAlaTrpThrThrThrAlaAlaValProThrSerAlaMetThrLeuArgSerAlaThrSerAla;Leu298_Cys299delinsAla;Asp301_Phe303delinsThrAlaSer]
CA2497030140
NM_001195799.2:c.820del