Allele Registry

Canonical Allele Identifier: PA2828502231

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000729430

ClinVar Variation:

594197

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361244.1:p.Trp442Cys	CA374937909 NM_001374315.2:c.1326G>C CA374937911 NM_001374315.2:c.1326G>T