Allele Registry

Canonical Allele Identifier: PA2830126183

Gene: TBX1 HGNC NCBI

ClinVar Allele:

1300679

ClinVar RCV:

RCV001758807

ClinVar Variation:

1311298

HGVS (amino-acid)	Matching Registered Transcripts
NP_542377.1:p.Ala275Val	CA410683527 NM_080646.2:c.824C>T