Allele Registry

Canonical Allele Identifier: PA2741879557

Gene: TBX1 HGNC NCBI

ClinVar Allele:

2672172

ClinVar RCV:

RCV003239073

ClinVar Variation:

2507182

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366129.1:p.Arg249Cys	CA410683287 NM_001379200.1:c.745C>T