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: PA2829981756

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1741992

ClinVar RCV Id: RCV002342542 RCV003626723 RCV004005669

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.His1500Gln	CA051970 NM_021055.3:c.4500C>G CA394304854 NM_021055.3:c.4500C>A