Canonical Allele Identifier: PA645375749
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226319
ClinVar RCV Id: RCV000211658 RCV000521830 RCV000820331 RCV002444847
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys109Tyr
CA043125
NM_000527.5:c.326G>A