Allele Registry

Canonical Allele Identifier: PA2830127520

Gene: TBX1 HGNC NCBI

ClinVar Variation Id: 1445550

HGVS (amino-acid)	Matching Registered Transcripts
NP_542378.1:p.Ser431Arg	CA410684970 NM_080647.1:c.1291A>C CA410684982 NM_080647.1:c.1293C>A CA410684984 NM_080647.1:c.1293C>G