Canonical Allele Identifier: PA916000583
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252006
ClinVar RCV Id: RCV000237346 RCV000825595 RCV001284641 RCV002229692 RCV002411088
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp579Asn
CA10585588
NM_001195798.2:c.1735G>A