Canonical Allele Identifier: PA915999136
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_001182727.1:p.Cys289Arg
CA10585164
NM_001195798.2:c.865T>C