Canonical Allele Identifier: PA915999035
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251456
ClinVar RCV Id: RCV000237807 RCV000793174 RCV002418052
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp266Tyr
CA10585134
NM_001195798.2:c.796G>T