Canonical Allele Identifier: PA2826212920
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226346
ClinVar RCV Id: RCV000211603 RCV001853402 RCV002415886
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys317Tyr
CA10576298
NM_001195799.2:c.950G>A