Allele Registry

Canonical Allele Identifier: PA2828499189

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000147705

RCV000636306

RCV001265418

ClinVar Variation:

160070

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361239.1:p.His231Arg	CA173637 NM_001374310.2:c.692A>G