Allele Registry

Canonical Allele Identifier: PA2828500770

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV001036492

ClinVar Variation:

835576

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Arg122Gly	CA374932306 NM_001374313.2:c.364C>G