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
ENSP00000489791.1:p.Ser23Arg	CA375176212 ENST00000637521.2:c.67A>C CA375176218 ENST00000637521.2:c.69C>G CA375176219 ENST00000637521.2:c.69C>A