Canonical Allele Identifier: PA100726
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_000518.1:p.Leu414Arg
CA033186
NM_000527.5:c.1241T>G