Canonical Allele Identifier: PA2826216578
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251747
ClinVar RCV Id: RCV000238583 RCV000775061 RCV003477854 RCV004020961
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Leu287Arg
CA033186
NM_001195803.2:c.860T>G