Canonical Allele Identifier: PA2826212775
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251540
ClinVar RCV Id: RCV000237523 RCV000791350 RCV002374402
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys272Trp
CA030215
NM_001195799.2:c.816C>G