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: PA645508386

Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 373667

ClinVar RCV Id: RCV000414601 RCV001196558

ClinVar Variation Id: 2631220

ClinVar RCV Id: RCV004527995

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000305.3:p.Gln245Pro	CA16042804 NM_000314.7:c.734A>C CA891839812 NM_000314.7:c.734_735delinsCA CA2695200882 NM_000314.7:c.734_735delinsCC