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.[Ser412_Gln414delinsAlaProSer;Asp416_Val421delinsThrGluProThrAla;Ser423_Asp425delinsLeuProMet;Val427_Ile428delinsProSer;Arg430_Ala434delinsAlaGluThrSerArg;Asp436delinsProThr;Leu438_Asp441delinsTrpLeuTrpThr]
CA916081219
NM_001195799.2:c.1234del