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.

ALLELE REGISTRY - SERVICE INTERRUPTION2024-08-10T11:00:00-0500 — 2024-08-10T15:00:00-0500
The ClinGen Allele Registry will have an off-hours outage to perform maintenance tasks.
The outage will not take the entire interruption period.

Canonical Allele Identifier: PA210053

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49471

ClinVar RCV Id: RCV000042731 RCV000201065 RCV000190076 RCV000491169 RCV000763368 RCV004537168

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg1743Trp	CA022213 NM_000548.5:c.5227C>T