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
ENSP00000362396.2:p.Asp224Glu
CA374933705
ENST00000373299.5:c.672C>A
CA374933707
ENST00000373299.5:c.672C>G