Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2825955818

Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1470924

ClinVar RCV Id: RCV001973393 RCV002442966

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Glu372Asp	CA375366217 NM_001162427.2:c.1116G>T CA375366218 NM_001162427.2:c.1116G>C