Allele Registry

Canonical Allele Identifier: PA2828501949

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000147709

ClinVar Variation:

160073

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361244.1:p.Tyr145His	CA173642 NM_001374315.2:c.433T>C