Allele Registry

Canonical Allele Identifier: PA2828498518

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000610309

RCV002531667

ClinVar Variation:

516760

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361238.1:p.Tyr126Cys	CA200262961 NM_001374309.2:c.377A>G