Canonical Allele Identifier: PA1139686094
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 926358
ClinVar RCV Id: RCV001193792 RCV001812241 RCV001188886 RCV004033388 RCV002279968
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg751Trp
CA039237
NM_001195798.2:c.2251C>T