Canonical Allele Identifier: PA645378451
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251783
ClinVar RCV Id: RCV000237607 RCV000775063 RCV002379061 RCV003401205
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ile441Thr
CA10585400
NM_000527.5:c.1322T>C