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.Cys119Ser
CA404076699
ENST00000535915.5:c.355T>A
CA404076709
ENST00000535915.5:c.356G>C