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_000518.1:p.[Leu346_Asp360delinsArgTrpProSerGluAspAlaLysIleSerMetSerValArgIle;Asp362del;Cys364_Tyr375delinsProAlaAlaSerSerAla]
CA2695228144
NM_000527.5:c.1037del