Canonical Allele Identifier: PA916001456
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 225179
ClinVar RCV Id: RCV000210835 RCV002517439
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gly78Arg
CA358786
NM_001195799.2:c.232G>A
CA404076284
NM_001195799.2:c.232G>C