Canonical Allele Identifier: PA645376743
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251345
ClinVar RCV Id: RCV000238105 RCV002356333
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys216Arg
CA10585033
NM_000527.5:c.646T>C