Canonical Allele Identifier: PA645377804
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251580
ClinVar RCV Id: RCV000238286 RCV000588581 RCV002256181 RCV002379058
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys325Tyr
CA10585234
NM_000527.5:c.974G>A