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: PA891864126

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 219847

ClinVar RCV Id: RCV000204858 RCV000216278 RCV000410342 RCV000478536 RCV001705171 RCV003997585

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Thr84Ser	CA349052 NM_000535.7:c.251C>G CA366744741 NM_000535.7:c.250A>T