Allele Registry

Canonical Allele Identifier: PA2828498029

Gene: STXBP1 HGNC NCBI

ClinVar Allele:

202296

ClinVar RCV:

RCV000549629

RCV002372156

RCV003150811

ClinVar Variation:

207455

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361237.1:p.Arg221Gly	CA318915 NM_001374308.2:c.661C>G