Allele Registry

Canonical Allele Identifier: PA2830127002

Gene: TBX1 HGNC NCBI

ClinVar Allele:

1472713

ClinVar RCV:

RCV002039341

ClinVar Variation:

1349890

HGVS (amino-acid)	Matching Registered Transcripts
NP_542378.1:p.Thr274Ser	CA410683518 NM_080647.1:c.820A>T CA410683521 NM_080647.1:c.821C>G