Allele Registry

Canonical Allele Identifier: PA2828496779

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000456399

ClinVar Variation:

407780

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361235.1:p.Thr126Pro	CA16612587 NM_001374306.2:c.376A>C