Canonical Allele Identifier: PA2826212804
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161263
ClinVar RCV Id: RCV000237236 RCV000162021 RCV000455308 RCV000771170 RCV002051656 RCV002371990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gly283Ser
CA023801
NM_001195799.2:c.847G>A