Canonical Allele Identifier: PA2826213097
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_001182728.1:p.Leu373Arg
CA033186
NM_001195799.2:c.1118T>G