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: PA916020178

Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 822361

ClinVar RCV Id: RCV001017657

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001291647.1:p.Ile83Leu	CA377485550 NM_001304718.1:c.247A>T CA377485553 NM_001304718.1:c.247A>C CA891834759 NM_001304718.1:c.247_249delinsTTG