Allele Registry

Canonical Allele Identifier: PA2828497193

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000414301

RCV002523940

ClinVar Variation:

373210

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361235.1:p.Arg548Leu	CA16042750 NM_001374306.2:c.1643G>T