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: PA2826896479

Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 536558

ClinVar RCV Id: RCV000645068 RCV001592799 RCV002248839

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001291646.4:p.Met208Ile	CA377784465 NM_001304717.5:c.624G>A CA377784467 NM_001304717.5:c.624G>C CA377784469 NM_001304717.5:c.624G>T