Canonical Allele Identifier: PA915998900
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 200920
ClinVar RCV Id: RCV000182341 RCV000586018 RCV000826173 RCV000211564 RCV002372113
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu240Lys
CA023755
NM_001195798.2:c.718G>A