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
ENSP00000515992.1:p.Gln250His
CA374934093
ENST00000704681.1:c.750G>C
CA374934095
ENST00000704681.1:c.750G>T