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
ENSP00000515991.1:p.Met238Ile
CA374934125
ENST00000704680.1:c.714G>T
CA374934127
ENST00000704680.1:c.714G>A
CA374934129
ENST00000704680.1:c.714G>C