Allele Registry

Canonical Allele Identifier: PA2580243640

Gene: TBX1 HGNC NCBI

ClinVar Allele:

2034462

ClinVar RCV:

RCV002774893

ClinVar Variation:

1977789

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366129.1:p.Val252Met	CA410683308 NM_001379200.1:c.754G>A