Allele Registry

Canonical Allele Identifier: PA118885

Gene: TBX1 HGNC NCBI

ClinVar RCV:

RCV001815165

ClinVar Variation:

7563

HGVS (amino-acid)	Matching Registered Transcripts
NP_005983.1:p.Phe148Tyr	CA118883 NM_005992.1:c.443T>A