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
NP_001361235.1:p.Thr554Ser	CA374939584 NM_001374306.2:c.1660A>T CA374939594 NM_001374306.2:c.1661C>G