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.Val568Leu
CA374939823
ENST00000636962.2:c.1702G>T
CA374939824
ENST00000636962.2:c.1702G>C