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.Lys226Asn
CA410683122
ENST00000649276.2:c.678G>C
CA410683123
ENST00000649276.2:c.678G>T