Canonical Allele Identifier: PA645378086
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251665
ClinVar RCV Id: RCV000237712 RCV000781493 RCV001800607 RCV002429173
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys368Tyr
CA032090
NM_000527.5:c.1103G>A