Canonical Allele Identifier: PA100775
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183120
ClinVar RCV Id: RCV000161994 RCV000238217 RCV000775072 RCV004017445 RCV002399589
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Pro526Ser
CA023533
NM_000527.5:c.1576C>T