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.[Tyr679_Leu682delinsLeuSerValPro;Ala684Cys;Gln686_Asn688delinsAlaAspGln;His690_Cys698delinsProLeuAlaGlnValTyrLeuArgLeu;Asp700del;Met702_Leu704delinsArgHisAla;Arg706_Met708delinsGlyGlnGlyHis]
CA10585736
NM_001195798.2:c.2035dup