Canonical Allele Identifier: PA2826212439
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 810850
ClinVar RCV Id: RCV001000105 RCV001222149
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Trp173Arg
CA404078136
NM_001195799.2:c.517T>A
CA404078139
NM_001195799.2:c.517T>C