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
ENSP00000489762.1:p.Gly272Arg
CA374934548
ENST00000636962.2:c.814G>A
CA374934550
ENST00000636962.2:c.814G>C