Canonical Allele Identifier: PA916001263
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226393
ClinVar RCV Id: RCV000211628 RCV000497399 RCV000587818 RCV000844752 RCV002453757
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val797Met
CA040347
NM_001195798.2:c.2389G>A