Canonical Allele Identifier: PA2826212923
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251652
ClinVar RCV Id: RCV000237343 RCV000811581
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys317Arg
CA10585293
NM_001195799.2:c.949T>C