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
ENSP00000454071.1:p.Trp483Arg
CA10585457
ENST00000558518.6:c.1447T>C
CA404086085
ENST00000558518.6:c.1447T>A