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
ENSP00000490613.1:p.Glu549Asp
CA374939429
ENST00000637953.1:c.1647G>C
CA374939432
ENST00000637953.1:c.1647G>T