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
ENSP00000490810.1:p.[Tyr344_Gly346del;Val348_Asp349del;Leu351_Lys360delinsAlaPro]
CA16043618
ENST00000636509.2:c.1030del