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: PA2827129270

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41705

ClinVar RCV Id: RCV000034620 RCV000076820 RCV000079105 RCV000144651 RCV000132121 RCV000409245 RCV001080515 RCV001353968 RCV001798065 RCV003224115

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308940.1:p.Arg252Leu	CA010068 NM_001322011.2:c.755G>T