Allele Registry

Canonical Allele Identifier: PA2828500777

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000456399

ClinVar Variation:

407780

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Thr129Pro	CA16612587 NM_001374313.2:c.385A>C