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: PA287759

Gene: TP53 HGNC NCBI

Linked Data

ClinVar Variation Id: 127817

ClinVar RCV Id: RCV000115728 RCV000419908 RCV000417813 RCV000418414 RCV000421548 RCV000426684 RCV000428029 RCV000429595 RCV000439186 RCV000434383 RCV000436065 RCV000439843 RCV001377420 RCV002288599 RCV002288598 RCV003997297

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119589.1:p.Leu62Phe	CA000278 NM_001126117.1:c.184C>T