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
ENSP00000453696.2:p.[Thr147_Gly149delinsIlePro;Phe153_Trp165delinsSerAlaThrAlaProProAlaSerProSerCysGlyPro;Cys167_Asp170delinsThrThrThr;Asp172_Asp178delinsThrAlaLysMetAlaArgMet]
CA2582473462
ENST00000559340.2:c.440_446del