Allele Registry

Canonical Allele Identifier: PA2828500877

Gene: STXBP1 HGNC NCBI

ClinVar Allele:

202296

ClinVar RCV:

RCV000549629

RCV002372156

RCV003150811

ClinVar Variation:

207455

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Arg235Gly	CA318915 NM_001374313.2:c.703C>G