Canonical Allele Identifier: PA2825179590
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1771687
ClinVar RCV Id: RCV002389164
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr467Tyr
CA2580096438
NM_000527.5:c.1399_1400delinsTA