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_001182727.1:p.[Pro84_Gln92delinsLeuHisSerSerValLeuGlu;Asp94_Asn97delinsArgTrpProSer;Ser99_Glu101delinsLeuArg;Gly103_Cys109delinsArgLeuArgArgAlaArgLeu;Ser110_Gln111insPro;Glu113delinsValLeuProGlyArg]
CA16602295
NM_001195798.2:c.244_250dup