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_011526312.1:p.[Asp172_Gln182delinsArgLeu;Cys184del;Gly186Trp;Tyr188_Gln191del;Asp193_Glu201del]
CA10584956
XM_011528010.2:c.513dup