Canonical Allele Identifier: PA645379299
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252003
ClinVar RCV Id: RCV000238353 RCV001377886 RCV002401945 RCV003897581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Trp577Ser
CA036295
NM_000527.5:c.1730G>C