Allele Registry

Canonical Allele Identifier: PA2828499242

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000189606

RCV000416099

RCV000623542

RCV000636416

RCV001265522

ClinVar Variation:

207424

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361239.1:p.Arg278His	CA318862 NM_001374310.2:c.833G>A