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: PA2830127616

Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 936438

ClinVar RCV Id: RCV001205234

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_542378.1:p.Ala472_Ala476del	CA10102754 NM_080647.1:c.1398_1412del CA1024131867 NM_080647.1:c.1392_1406del