Allele Registry

Canonical Allele Identifier: PA2828501354

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000456399

ClinVar Variation:

407780

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361243.1:p.Thr129Pro	CA16612587 NM_001374314.1:c.385A>C