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.[Cys107_Gly108delinsLysArg;Ala110_Gln122delinsArg;Trp124_Gln141del;Cys143del;Gly145Trp;Tyr147_Gln150del;Asp152_Ser157del]
CA645373223
NM_001195799.2:c.319_381delinsA