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
ENSP00000515992.1:p.[Ile393_Arg402delinsPheCysTrpMetProMetHisHisGlyGly;Lys403_Thr404insProGluGln;Thr404_Ter405insAspProAlaArgProAspThrProGlyGly]
CA1139661196
ENST00000704681.1:c.1176del