Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2827138687

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1782605

ClinVar RCV Id: RCV002410638

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308944.1:p.Ser536Arg	CA366739266 NM_001322015.1:c.1608T>G CA366739269 NM_001322015.1:c.1608T>A CA366739282 NM_001322015.1:c.1606A>C