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.Trp288Arg
CA374934650
ENST00000373299.5:c.862T>A
CA374934651
ENST00000373299.5:c.862T>C