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Canonical Allele Identifier: Get Identifier
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000490810.1:p.[Pro244_Val249delinsAla;Lys251_Ala260del;Val262del;Glu264_Leu273del]
CA2695211359
ENST00000636509.2:c.729dup