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_001361241.1:p.Ile74Ser
CA374931703
NM_001374312.2:c.221T>G