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
ENSP00000440520.1:p.[Gly283_Asp290delinsAlaValProThrSerAlaMetThr;Lys292_Cys299delinsArgSerAlaThrSerAlaCysAla;Asp301_Glu312delinsThrAlaSerSerTrpTrpProSerGluAspAla]
CA10585232
ENST00000535915.5:c.846del