Canonical Allele Identifier: PA645376113
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251220
ClinVar RCV Id: RCV000238346 RCV002327172 RCV003581597 RCV003401202
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys143Tyr
CA10584917
NM_000527.5:c.428G>A