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: TBXAS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000411274.3:p.[Thr373_Ile386delinsTrpMetArgLeuTrpAlaArgProSerSerSerSerSerLeu;Gly388_Ile392delinsMetLysSerSerPro;Asn394_Thr395delinsHisPhe;Ser397_Ala399delinsLeuProPro;Leu402_Leu403delinsTrp]
CA2685190568
ENST00000458722.6:c.1117_1120del