Allele Registry

Canonical Allele Identifier: PA2573213484

Gene: TBX1 HGNC NCBI

ClinVar Allele:

1472713

ClinVar RCV:

RCV002039341

ClinVar Variation:

1349890

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366129.1:p.Thr283Ser	CA410683518 NM_001379200.1:c.847A>T CA410683521 NM_001379200.1:c.848C>G