Allele Registry

Canonical Allele Identifier: PA2580243530

Gene: TBX1 HGNC NCBI

ClinVar RCV:

RCV003091608

ClinVar Variation:

2163092

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366129.1:p.Cys17Arg	CA2580099091 NM_001379200.1:c.49T>C