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
ENSP00000485680.1:p.Ser75Arg
CA374931705
ENST00000630492.2:c.223A>C
CA374931711
ENST00000630492.2:c.225T>A
CA374931712
ENST00000630492.2:c.225T>G