Canonical Allele Identifier: PA645380145
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252178
ClinVar RCV Id: RCV000238301 RCV003581638
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys677Tyr
CA10585732
NM_000527.5:c.2030G>A