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: PA2827102950

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1022988

ClinVar RCV Id: RCV001322973 RCV004035091

ClinVar Variation Id: 2110721

ClinVar RCV Id: RCV003042484

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308932.1:p.Thr714Ser	CA366734822 NM_001322003.2:c.2141C>G CA366734824 NM_001322003.2:c.2140A>T