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.Cys229Ser
CA10585141
ENST00000535915.5:c.685T>A
CA404080256
ENST00000535915.5:c.686G>C