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
ENSP00000440520.1:p.[Asp176_Gly178delinsValTrpTrp;Asp180_Cys195del;Pro197_Phe200delinsLeuGlnGly;Cys202_Gly205delinsIle]
CA10585039
ENST00000535915.5:c.526_527insT