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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000490903.1:p.Cys110Ser
CA374932147
ENST00000635950.2:c.328T>A
CA374932154
ENST00000635950.2:c.329G>C