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.[Asp502_Lys504del;Val506_Lys518delinsIle;Ile522_Met531del]
CA2499225320
ENST00000558013.5:c.1503_1504dup