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Canonical Allele Identifier: Get Identifier
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000485680.1:p.[Ser75_Phe92delinsValThrLeuArgThrArgArgLeuLeuAsnThrGlyLeuHisThrSerSerSerLeu;Asp94_Ala99delinsLeuValGlnMetProCys;Phe101_Asn102delinsMet]
CA16612695
ENST00000630492.2:c.223del