Canonical Allele Identifier: PA099887
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183110
ClinVar RCV Id: RCV000161982 RCV000211633 RCV000586690 RCV000825619 RCV002390392
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg416Trp
CA023441
NM_000527.5:c.1246C>T