Canonical Allele Identifier: PA916001123
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252241
ClinVar RCV Id: RCV000238548 RCV003581644
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu716Lys
CA10585792
NM_001195798.2:c.2146G>A