Allele Registry

Canonical Allele Identifier: PA2830126240

Gene: TBX1 HGNC NCBI

ClinVar RCV:

RCV000534155

RCV003960250

ClinVar Variation:

455794

HGVS (amino-acid)	Matching Registered Transcripts
NP_542377.1:p.Gly310Cys	CA410683778 NM_080646.2:c.928G>T