Allele Registry

Canonical Allele Identifier: PA2828500978

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000489992

RCV002466257

RCV003753124

ClinVar Variation:

427039

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Pro335Ser	CA374935919 NM_001374313.2:c.1003C>T