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
ENSP00000477982.1:p.Val246Leu	CA410683328 ENST00000621939.1:c.736G>C CA410683329 ENST00000621939.1:c.736G>T