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
NP_001361235.1:p.Asp283Glu
CA374934643
NM_001374306.2:c.849C>A
CA374934644
NM_001374306.2:c.849C>G