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.Ser820Arg
CA404099003
ENST00000558013.5:c.2458A>C
CA404099019
ENST00000558013.5:c.2460C>A
CA404099023
ENST00000558013.5:c.2460C>G