Canonical Allele Identifier: PA916001541
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251203
ClinVar RCV Id: RCV000238277 RCV002356328 RCV003581596
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys93Tyr
CA10584902
NM_001195799.2:c.278G>A