Canonical Allele Identifier: PA2825179375
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1120245
ClinVar RCV Id: RCV001450031 RCV001508840 RCV002377745 RCV002557526
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu426Arg
CA404084869
NM_000527.5:c.1277T>G