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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.[Phe153_Tyr157delinsProLysLeuLeuGln;His160_Thr178delinsGlnGlySerAspGluGluSerTyrThrGlyAlaProGlyArgAlaAspArgAspPro;Ala181_Thr182delinsHisPro]
CA2739265034
ENST00000373299.5:c.457_458del