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: STXBP1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000487211.1:p.Thr82Ser	CA374931757 ENST00000626539.2:c.244A>T CA374931760 ENST00000626539.2:c.245C>G