Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
NP_542378.1:p.Val243Leu	CA410683309 NM_080647.1:c.727G>C CA410683310 NM_080647.1:c.727G>T