Canonical Allele Identifier: PA235460
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183125
ClinVar RCV Id: RCV000162000 RCV001804889 RCV002505198
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp589His
CA023571
NM_000527.5:c.1765G>C