Canonical Allele Identifier: PA916001329
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161278
ClinVar RCV Id: RCV000162024 RCV000237126 RCV000776249 RCV001420704 RCV002051671 RCV002453471
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg814Gln
CA023671
NM_001195798.2:c.2441G>A