Allele Registry

Canonical Allele Identifier: PA2830126133

Gene: TBX1 HGNC NCBI

ClinVar Allele:

2034462

ClinVar RCV:

RCV002774893

ClinVar Variation:

1977789

HGVS (amino-acid)	Matching Registered Transcripts
NP_542377.1:p.Val243Met	CA410683308 NM_080646.2:c.727G>A