Allele Registry

Canonical Allele Identifier: PA254218

Gene: TBX1 HGNC NCBI

ClinVar RCV:

RCV000008000

RCV000618981

RCV000828677

ClinVar Variation:

7564

HGVS (amino-acid)	Matching Registered Transcripts
NP_542378.1:p.Gly310Ser	CA254215 NM_080647.1:c.928G>A