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
ENSP00000490810.1:p.Thr82Ser
CA374931757
ENST00000636509.2:c.244A>T
CA374931760
ENST00000636509.2:c.245C>G