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
ENSP00000397829.2:p.Ser678Arg
CA040971
ENST00000455727.6:c.2034C>G
CA404099880
ENST00000455727.6:c.2032A>C
CA404099899
ENST00000455727.6:c.2034C>A