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.[Thr106_Gly108delinsIlePro;Phe112_Trp124delinsSerAlaThrAlaProProAlaSerProSerCysGlyPro;Cys126_Asp129delinsThrThrThr;Asp131_Asp137delinsThrAlaLysMetAlaArgMet]
CA2582473462
ENST00000535915.5:c.317_323del