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: PA916020136

Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 373667

ClinVar RCV Id: RCV000414601 RCV001196558

ClinVar Variation Id: 2631220

ClinVar RCV Id: RCV004527995

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001291647.1:p.Gln48Pro	CA16042804 NM_001304718.1:c.143A>C CA891839812 NM_001304718.1:c.143_144delinsCA CA2695200882 NM_001304718.1:c.143_144delinsCC