Allele Registry

Canonical Allele Identifier: PA2573076026

Gene: TBX1 HGNC NCBI

ClinVar RCV:

RCV000534155

RCV003960250

ClinVar Variation:

455794

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366129.1:p.Gly319Cys	CA410683778 NM_001379200.1:c.955G>T