Allele Registry

Canonical Allele Identifier: PA2830126949

Gene: TBX1 HGNC NCBI

ClinVar Allele:

2672172

ClinVar RCV:

RCV003239073

ClinVar Variation:

2507182

HGVS (amino-acid)	Matching Registered Transcripts
NP_542378.1:p.Arg240Cys	CA410683287 NM_080647.1:c.718C>T