Canonical Allele Identifier: PA645380499
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375835
ClinVar RCV Id: RCV000417287 RCV000775613 RCV001192515 RCV001536350
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val736Ile
CA039136
NM_000527.5:c.2206G>A