Canonical Allele Identifier: PA645378815
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251877
ClinVar RCV Id: RCV000238399
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp502Tyr
CA10585485
NM_000527.5:c.1504G>T