Canonical Allele Identifier: PA916000609
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 200921
ClinVar RCV Id: RCV000182342 RCV000211604 RCV000771547 RCV000825621 RCV002399654
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.His583Tyr
CA023567
NM_001195798.2:c.1747C>T