Canonical Allele Identifier: PA645377434
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251492
ClinVar RCV Id: RCV000237446 RCV002446474
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys289Arg
CA10585164
NM_000527.5:c.865T>C