Canonical Allele Identifier: PA916001144
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252259
ClinVar RCV Id: RCV000237861 RCV000455106 RCV001186236
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Thr742Ile
CA039172
NM_001195798.2:c.2225C>T