Canonical Allele Identifier: PA235390
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183085
ClinVar RCV Id: RCV000161954 RCV000211613 RCV000454392 RCV001186038 RCV002453561
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp118Tyr
CA023697
NM_000527.5:c.352G>T