Canonical Allele Identifier: PA916000565
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251999
ClinVar RCV Id: RCV000237843 RCV001223410 RCV001800609
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Tyr576Cys
CA10585583
NM_001195798.2:c.1727A>G