Canonical Allele Identifier: PA916000075
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183114
ClinVar RCV Id: RCV000161986 RCV000237809 RCV001041965 RCV002390393 RCV003895080
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Tyr465Asn
CA023482
NM_001195798.2:c.1393T>A