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
ENSP00000453346.1:p.[Asp36Val;Lys38_Lys43delinsLeuArg;Val45_Cys52del;Asp54_Phe73delinsArg]
CA9204945
ENST00000558013.5:c.107_129del