Canonical Allele Identifier: PA2826214085
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252328
ClinVar RCV Id: RCV000237359
ClinVar Variation Id: 440694
ClinVar RCV Id: RCV000508758 RCV003581678
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gly764Arg
CA10585858
NM_001195799.2:c.2290G>A
CA404098452
NM_001195799.2:c.2290G>C