Allele Registry

Canonical Allele Identifier: PA2828497059

Gene: STXBP1 HGNC NCBI

ClinVar Allele:

259912

ClinVar RCV:

RCV000254966

RCV001240474

RCV001265291

ClinVar Variation:

265263

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361235.1:p.Leu423Pro	CA10588466 NM_001374306.2:c.1268T>C