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Canonical Allele Identifier: Get Identifier
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000498834.1:p.[Ile218_Leu219del;Arg221Pro;Phe223_Pro225del;Ser227_Val229delinsArg;His231_Glu246del]
CA658822746
ENST00000650920.1:c.650dup