Allele Registry

Canonical Allele Identifier: PA2828500786

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000610309

RCV002531667

ClinVar Variation:

516760

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Tyr140Cys	CA200262961 NM_001374313.2:c.419A>G