Canonical Allele Identifier: PA2826213123
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2773511
ClinVar RCV Id: RCV003582110
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Pro383Thr
CA305300070
NM_001195799.2:c.1147C>A