Canonical Allele Identifier: PA2826212688
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161280
ClinVar RCV Id: RCV000237748 RCV001176040 RCV002051673 RCV002444606 RCV002307407
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gly246Ser
CA023782
NM_001195799.2:c.736G>A