Allele Registry

Canonical Allele Identifier: PA645402120

Gene: STXBP1 HGNC NCBI

ClinVar Allele:

259912

ClinVar RCV:

RCV000254966

RCV001240474

RCV001265291

ClinVar Variation:

265263

HGVS (amino-acid)	Matching Registered Transcripts
NP_003156.1:p.Leu426Pro	CA10588466 NM_003165.6:c.1277T>C