Canonical Allele Identifier: PA2825180176
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1059537
ClinVar RCV Id: RCV001368838 RCV003169887 RCV002488147
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu575Pro
CA404089679
NM_000527.5:c.1724T>C