Canonical Allele Identifier: PA916001437
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 225402
ClinVar RCV Id: RCV000237176 RCV000771221 RCV001788071 RCV002460059
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg74His
CA043240
NM_001195799.2:c.221G>A