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.Ser531Arg
CA036160
ENST00000535915.5:c.1593T>G
CA404089653
ENST00000535915.5:c.1591A>C
CA404089665
ENST00000535915.5:c.1593T>A