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: PA658832594

Gene: ADA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 120304

ClinVar RCV Id: RCV000106385 RCV001091906 RCV002262705 RCV002498474 RCV003445509

ClinVar Variation Id: 1076271

ClinVar RCV Id: RCV001390131 RCV001535952 RCV002264292 RCV003334041 RCV003399212

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269157.1:p.Gly5Arg	CA150810 NM_001282228.2:c.13G>A CA10088319 NM_001282228.2:c.13G>C