Canonical Allele Identifier: PA2826212597
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927149
ClinVar RCV Id: RCV001190237 RCV002504206 RCV003478725
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg216Gln
CA029330
NM_001195799.2:c.647G>A