Allele Registry

Canonical Allele Identifier: PA2828500824

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000007119

RCV002311507

ClinVar Variation:

6727

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Cys180Tyr	CA118450 NM_001374313.2:c.539G>A