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
ENSP00000252444.6:p.[Ser292_Ser299delinsLys;Cys302_Gly305delinsValHis;Asp307_Cys317delinsLeuGlnLeu;Val319_Thr321delinsLeu]
CA10585013
ENST00000252444.10:c.874dup