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
XP_011526312.1:p.[Thr147_Pro150delinsProAlaSerSer;Ser152_Asn156delinsThrAlaProProAla;Ser158_Thr159delinsProSer;Ile161Gly;Gln163_Trp165del;Cys167_Asp170delinsThrThrThr;Asp172_Trp180delinsThrAlaLysMetAlaArgMetSerGly]
CA2695223198
XM_011528010.2:c.439_451del