Canonical Allele Identifier: PA2580170114
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2118340
ClinVar RCV Id: RCV003030428
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Thr389Lys
CA404083874
NM_001195798.2:c.1166C>A