Allele Registry

Canonical Allele Identifier: PA2828500945

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000414192

ClinVar Variation:

372603

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.His293Tyr	CA16042764 NM_001374313.2:c.877C>T