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
ENSP00000453557.1:p.[Asp224_Phe241delinsGly;Cys243_Cys248del;His250_Arg253del]
CA10585062
ENST00000557933.5:c.670dup