Canonical Allele Identifier: PA250455
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226329
ClinVar RCV Id: RCV000211647 RCV000489033 RCV000589051 RCV002363056 RCV004017502
ClinVar Variation Id: 251352
ClinVar RCV Id: RCV000237428
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly219del
CA023734
NM_000527.5:c.654_656del
CA10585042
NM_000527.5:c.655_657del