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
ENSP00000490519.1:p.Thr543Ser
CA374939584
ENST00000637173.2:c.1627A>T
CA374939594
ENST00000637173.2:c.1628C>G