This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: TBX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000497003.1:p.Val273Leu
CA410683458
ENST00000649276.2:c.817G>C
CA410683459
ENST00000649276.2:c.817G>T