Canonical Allele Identifier: PA2826212318
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251268
ClinVar RCV Id: RCV000238056 RCV002519841
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp131Tyr
CA10584959
NM_001195799.2:c.391G>T