Canonical Allele Identifier: PA916001171
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161262
ClinVar RCV Id: RCV000162013 RCV000237277 RCV000780383 RCV001186237 RCV002051655 RCV003162605
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Thr761Met
CA023656
NM_001195798.2:c.2282C>T