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
NP_001182728.1:p.[Pro704_Thr708delinsSerAspAsnVal;Arg710_Leu711del;Gly713_Pro716delinsSerSer;Leu718_His728delinsArgArgCysTrp;Ala730_Gly736del;Gly738_Glu740del;Lys742_Val752del]
CA658799127
NM_001195799.2:c.2110_2168del
CA2573156041
NM_001195799.2:c.2109_2167del