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.[Leu682del;Pro685Asp;Ile687_Asn688delinsPro;His690_Cys698delinsLeuAlaGlnValTyrLeuArgLeu;Asp700del;Met702_Leu704delinsArgHisAla;Arg706_Cys711delinsGlyGlnGlyHisGluGlu;Thr713_Glu714delinsProHisArg]
CA2695228172
NM_001195798.2:c.2045_2052del