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
ENSP00000362396.2:p.Asp238Glu
CA173644
ENST00000373299.5:c.714C>A
CA374933939
ENST00000373299.5:c.714C>G