Canonical Allele Identifier: PA2826213011
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161283
ClinVar RCV Id: RCV000237987 RCV001181606 RCV002051676 RCV002223790 RCV002326857 RCV003488400
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Thr348Met
CA023424
NM_001195799.2:c.1043C>T