Canonical Allele Identifier: PA2826213565
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_001182728.1:p.His542Tyr
CA023567
NM_001195799.2:c.1624C>T