Canonical Allele Identifier: PA211575
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 36452
ClinVar RCV Id: RCV000030124 RCV000775055 RCV002051646 RCV002426524
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp362Ala
CA023415
NM_000527.5:c.1085A>C