Allele Registry

Canonical Allele Identifier: PA2828496904

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000444312

ClinVar Variation:

393201

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361235.1:p.Leu253Pro	CA16605551 NM_001374306.2:c.758T>C