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
XP_011526313.1:p.[Asn518_Ser521delinsLysProThrVal;Glu523_Asn530delinsArgGlyTyrGlySer;Thr532Pro;Arg535_Cys540delinsHisProAlaLysArgSer;Arg542_Thr544del;Ser546_Asn547delinsVal]
CA10585684
XM_011528011.1:c.1553dup