Canonical Allele Identifier: PA645378849
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251886
ClinVar RCV Id: RCV000237591 RCV001177034 RCV002401935 RCV004017558
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr510Met
CA034662
NM_000527.5:c.1529C>T