Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA916025592

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 496040

ClinVar RCV Id: RCV000588167 RCV001206324

ClinVar Variation Id: 1368365

ClinVar RCV Id: RCV001867465

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Phe95Leu	CA366744656 NM_001322014.1:c.285T>G CA366744657 NM_001322014.1:c.285T>A CA366744662 NM_001322014.1:c.283T>C