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.Cys184Ser
CA404077193
ENST00000558518.6:c.550T>A
CA404077216
ENST00000558518.6:c.551G>C