Allele Registry

Canonical Allele Identifier: PA173643

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000147709

ClinVar Variation:

160073

HGVS (amino-acid)	Matching Registered Transcripts
NP_003156.1:p.Tyr145His	CA173642 NM_003165.6:c.433T>C