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
ENSP00000454071.1:p.Cys284Ser
CA10585157
ENST00000558518.6:c.850T>A
CA10585160
ENST00000558518.6:c.851G>C