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: PA2827138398

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135940

ClinVar RCV Id: RCV000132456 RCV000587523 RCV001080776 RCV001263509 RCV003492543

ClinVar Variation Id: 141394

ClinVar RCV Id: RCV000129896 RCV000478617 RCV000662634 RCV001081618 RCV001193855

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308944.1:p.Arg460Gln	CA010042 NM_001322015.1:c.1379_1380delinsAG CA010059 NM_001322015.1:c.1379G>A