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: PA2827138289

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 484280

ClinVar RCV Id: RCV000575764 RCV001050031 RCV003320698

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308944.1:p.Asp431Glu	CA366741503 NM_001322015.1:c.1293C>G CA366741504 NM_001322015.1:c.1293C>A