Canonical Allele Identifier: PA2826213012
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_001182728.1:p.Thr348Lys
CA404083874
NM_001195799.2:c.1043C>A