Canonical Allele Identifier: PA645380481
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252246
ClinVar RCV Id: RCV000238120 RCV001804978
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr724Ile
CA10585797
NM_000527.5:c.2171C>T