Canonical Allele Identifier: PA916001596
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251213
ClinVar RCV Id: RCV000238418 RCV000775038 RCV001090450 RCV002327170 RCV003231417
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Glu99Lys
CA10584911
NM_001195799.2:c.295G>A