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: PA2827134462

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 480330

ClinVar RCV Id: RCV000561492 RCV000706959 RCV001584373 RCV001284326

ClinVar Variation Id: 1790236

ClinVar RCV Id: RCV002457741 RCV003098826

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308942.1:p.Met598Ile	CA047893 NM_001322013.1:c.1794G>A CA366735808 NM_001322013.1:c.1794G>T CA366735811 NM_001322013.1:c.1794G>C