Canonical Allele Identifier: PA2826212430
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251335
ClinVar RCV Id: RCV000237464 RCV000786352 RCV000781510 RCV001034621 RCV002365239 RCV004017546
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.His170Tyr
CA044139
NM_001195799.2:c.508C>T