Allele Registry

Canonical Allele Identifier: PA2828499124

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000007119

RCV002311507

ClinVar Variation:

6727

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361239.1:p.Cys166Tyr	CA118450 NM_001374310.2:c.497G>A