Allele Registry

Canonical Allele Identifier: PA2828500469

Gene: STXBP1 HGNC NCBI

ClinVar Allele:

259912

ClinVar RCV:

RCV000254966

RCV001240474

RCV001265291

ClinVar Variation:

265263

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361241.1:p.Leu412Pro	CA10588466 NM_001374312.2:c.1235T>C