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: PA2825189993

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1481909

ClinVar RCV Id: RCV001994323

ClinVar Variation Id: 2723913

ClinVar RCV Id: RCV003595374

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Lys178Asn	CA366744154 NM_000535.7:c.534G>C CA366744155 NM_000535.7:c.534G>T