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: PA2827135169

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 455727

ClinVar RCV Id: RCV000544593 RCV000580997

ClinVar Variation Id: 629966

ClinVar RCV Id: RCV000774829

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Arg175Ser	CA366744174 NM_001322014.1:c.525G>T CA366744175 NM_001322014.1:c.525G>C