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.[Thr693_Arg696delinsSerArgLysAsp;Gln698Ala;Thr700_Arg703delinsAsnHis;Val705_Thr708delinsThrCys;Arg710_Leu711insHis;Gly713Ala;Thr715delinsTrpGlyHis;Gly717_Ile723delinsTrpAlaHisHisGlyGlyAsp]
CA10585806
NM_001195799.2:c.2078_2079del