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Canonical Allele Identifier: Get Identifier
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000362396.1:p.[Glu27_Met38delinsGlyAsnGly;Met40_Ser43del;Cys45_Asp49delinsTrpTrpTrp;Met51_Gly54delinsSer;Thr56_Ile57del]
CA2739265059
ENST00000373299.4:c.78_79dup