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: PA2827127718

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411080

ClinVar RCV Id: RCV001014544 RCV002230441

ClinVar Variation Id: 1786330

ClinVar RCV Id: RCV002417707 RCV003098637 RCV003150566

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Phe522Leu	CA16612211 NM_001322010.2:c.1566C>G CA366737934 NM_001322010.2:c.1566C>A CA366737939 NM_001322010.2:c.1564T>C