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
ENSP00000437639.1:p.Cys169Ser
CA10585175
ENST00000545707.5:c.506G>C
CA404080933
ENST00000545707.5:c.505T>A