Canonical Allele Identifier: PA645379595
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252046
ClinVar RCV Id: RCV000238082 RCV000775078 RCV003233513 RCV002411092 RCV003993908
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala606Thr
CA036744
NM_000527.5:c.1816G>A