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Canonical Allele Identifier: Get Identifier
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489762.1:p.[Lys98_Ala102delinsAsnThrGlyLeu;Val104_Phe106del;Asp108Ser;Cys110_Ala113delinsSer;Phe115_Glu117delinsThr;Lys120_Lys128delinsGlnMetProCysLeuMetAsnTrp]
CA915947150
ENST00000636962.2:c.294del