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.[Leu305_Asp319delinsArgTrpProSerGluAspAlaLysIleSerMetSerValArgIle;Asp321del;Cys323_Tyr334delinsProAlaAlaSerSerAla]
CA2695228144
NM_001195799.2:c.914del