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.[Cys681_Leu682insSer;Ala684_Asn688delinsArgArgSerThr;His690_Ser691delinsThrArg;Lys693_Cys696delinsSerLeuPro;Cys698del;Asp700_Leu704delinsAlaArgThr;Arg706_Cys711delinsCysCysTrpProGlyThr]
CA2830773956
NM_001195798.2:c.2044del