Allele Registry

OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH

Canonical Allele Identifier: PA645378476

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251792

ClinVar RCV Id: RCV000237729 RCV000494596 RCV000791422 RCV000844741 RCV002379064

ClinVar Variation Id: 251793

ClinVar RCV Id: RCV000238274 RCV001857827 RCV001699172

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Trp443Cys	CA10585409 NM_000527.5:c.1329G>C CA10585410 NM_000527.5:c.1329G>T