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: PA891864118

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 216456

ClinVar RCV Id: RCV000199747 RCV001015438 RCV003468908 RCV003997028

ClinVar Variation Id: 492275

ClinVar RCV Id: RCV000582270 RCV000663328 RCV000690673 RCV004002367

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Phe80Leu	CA048060 NM_000535.7:c.240C>G CA366744767 NM_000535.7:c.240C>A CA366744771 NM_000535.7:c.238T>C