Canonical Allele Identifier: PA645378108
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251681
ClinVar RCV Id: RCV000237613 RCV002321916 RCV002518484 RCV003736671
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys377Tyr
CA10585320
NM_000527.5:c.1130G>A