Allele Registry

Canonical Allele Identifier: PA2828501123

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000189615

RCV000415832

RCV000471170

RCV001260800

RCV002514068

ClinVar Variation:

207432

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Pro480Leu	CA318877 NM_001374313.2:c.1439C>T