Canonical Allele Identifier: PA2825208715
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927670
ClinVar RCV Id: RCV001191079 RCV002224017 RCV002480636 RCV003235489
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gln254Glu
CA029271
NM_000527.5:c.760C>G