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_001361243.1:p.[Gly236_Val243delinsGluAla;His245_Leu247del;Phe249_Gln250delinsPro;Met252_Asp255delinsPro;Leu257_Glu260delinsCysSerMet;Asp262_Tyr264del]
CA1139661187
NM_001374314.1:c.704_705insGG