Canonical Allele Identifier: PA913195452
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 630379
ClinVar RCV Id: RCV000775619 RCV004001458
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val806Phe
CA040732
NM_000527.5:c.2416G>T