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
ENSP00000453346.1:p.[Gly324_Asp331delinsAlaValProThrSerAlaMetThr;Lys333_Cys340delinsArgSerAlaThrSerAlaCysAla;Asp342_Glu353delinsThrAlaSerSerTrpTrpProSerGluAspAla]
CA10585232
ENST00000558013.5:c.969del