Allele Registry

Canonical Allele Identifier: PA2828498609

Gene: STXBP1 HGNC NCBI

ClinVar Allele:

202296

ClinVar RCV:

RCV000549629

RCV002372156

RCV003150811

ClinVar Variation:

207455

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361238.1:p.Arg221Gly	CA318915 NM_001374309.2:c.661C>G