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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.[Glu530_Gly534delinsAlaValAla;Arg536_Ile539delinsAlaSerSer;Ile541_Val545delinsSer;Asn548_Glu555delinsGly;Thr557_Gly561del]
CA2695211148
ENST00000373299.5:c.1589_1595del