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_Pro109delinsProAlaSerSer;Ser111_Asn115delinsThrAlaProProAla;Ser117_Thr118delinsProSer;Ile120Gly;Gln122_Trp124del;Cys126_Asp129delinsThrThrThr;Asp131_Trp139delinsThrAlaLysMetAlaArgMetSerGly]
CA2695223198
ENST00000535915.5:c.316_328del