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: PA2827116332

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 633374

ClinVar RCV Id: RCV000781758 RCV002535699

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308935.1:p.Phe621Leu	CA153224987 NM_001322006.2:c.1863T>G CA366738173 NM_001322006.2:c.1863T>A CA366738178 NM_001322006.2:c.1861T>C