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Canonical Allele Identifier: Get Identifier
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000362396.2:p.[Gly375_Val391delinsAlaGlnMetLeuArgGluArgArgSerArgThrLeuCysGluProSerSer;Ile393_Asp403delinsPheCysTrpMetProMetSerAlaLeuMetThr]
CA2831039517
ENST00000373299.5:c.1124del