Canonical Allele Identifier: PA916000095
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183116
ClinVar RCV Id: RCV000161988 RCV000237883 RCV000844749 RCV000775068 RCV002390395
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp472Tyr
CA023492
NM_001195798.2:c.1414G>T