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.[Phe77_Phe92delinsLeuArgThrArgArgLeuLeuAsnThrGlyLeuHisThrSerSerSerLeu;Asp94_Ala99delinsLeuValGlnMetProCys;Phe101_Asn102delinsMet]
CA2695211179
ENST00000630492.2:c.231del