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.[Cys640_Leu641insSer;Ala643_Asn647delinsArgArgSerThr;His649_Ser650delinsThrArg;Lys652_Cys655delinsSerLeuPro;Cys657del;Asp659_Leu663delinsAlaArgThr;Arg665_Cys670delinsCysCysTrpProGlyThr]
CA2830773956
NM_001195799.2:c.1921del