Canonical Allele Identifier: PA2826213590
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 373769
ClinVar RCV Id: RCV000417321 RCV001178326 RCV003477910 RCV002402107
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gly551Arg
CA036598
NM_001195799.2:c.1651G>A
CA404089763
NM_001195799.2:c.1651G>C