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.Trp490Arg
CA023507
ENST00000557933.5:c.1468T>C
CA404086231
ENST00000557933.5:c.1468T>A