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Canonical Allele Identifier: Get Identifier
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000515992.1:p.[Phe91_Ala102delinsLeuArgThrArgArgLeuLeuAsnThrGlyLeu;Val104_Asp108delinsThrSerSer;Cys110_Glu117delinsLeuThrLeuValGlnMetProCys;Val119_Ser121delinsMetAsnTrp]
CA2695211179
ENST00000704681.1:c.273del