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: PA2825181357

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3232082

ClinVar RCV Id: RCV004518797

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ser526Arg	CA394326663 NM_000548.5:c.1576A>C CA394326680 NM_000548.5:c.1578C>A CA394326682 NM_000548.5:c.1578C>G