Allele Registry

Canonical Allele Identifier: PA1139702650

Gene: STXBP1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_003156.1:p.Arg583Ser	CA5248627 NM_003165.6:c.1749A>C CA374941117 NM_003165.6:c.1749A>T