Canonical Allele Identifier: PA2825181036
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2773527
ClinVar RCV Id: RCV003582126
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr743Ile
CA305305137
NM_000527.5:c.2228C>T