Canonical Allele Identifier: PA235399
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183089
ClinVar RCV Id: RCV000161959 RCV000237262 RCV001181335 RCV002345556 RCV004525832
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Pro181Arg
CA023717
NM_000527.5:c.542C>G