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.Ser172Arg
CA044176
ENST00000535915.5:c.516C>A
CA404078095
ENST00000535915.5:c.514A>C
CA404078119
ENST00000535915.5:c.516C>G