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: PA2826233589

Gene: TBC1D24 HGNC NCBI

Linked Data

ClinVar Variation Id: 1187875

ClinVar RCV Id: RCV001547463 RCV003771679

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001186036.1:p.Phe250Leu	CA7844058 NM_001199107.2:c.750C>G CA394377137 NM_001199107.2:c.748T>C CA394377144 NM_001199107.2:c.750C>A