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Canonical Allele Identifier: Get Identifier
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000490519.1:p.[Gln544_Trp549delinsArgProThr;Val551_Ile553delinsSer;Ser555_Lys573delinsArgCys]
CA2695211150
ENST00000637173.2:c.1630del