Canonical Allele Identifier: PA916001439
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251162
ClinVar RCV Id: RCV000238127 RCV001293736 RCV002450743 RCV003233512
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg74Cys
CA043225
NM_001195799.2:c.220C>T