Canonical Allele Identifier: PA2826211482
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1329999
ClinVar RCV Id: RCV001801016
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys116Tyr
CA404076267
NM_001195798.2:c.347G>A