Allele Registry

Canonical Allele Identifier: PA2828498304

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000412866

ClinVar Variation:

372989

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361237.1:p.Ala503Ser	CA16042662 NM_001374308.2:c.1507G>T