Allele Registry

Canonical Allele Identifier: PA2573076025

Gene: TBX1 HGNC NCBI

ClinVar RCV:

RCV000008000

RCV000618981

RCV000828677

ClinVar Variation:

7564

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366129.1:p.Gly319Ser	CA254215 NM_001379200.1:c.955G>A