Allele Registry

Canonical Allele Identifier: PA2828499991

Gene: STXBP1 HGNC NCBI

ClinVar Allele:

202320

ClinVar RCV:

RCV000189615

RCV000415832

RCV000471170

RCV001260800

RCV002514068

ClinVar Variation:

207432

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361240.1:p.Pro466Leu	CA318877 NM_001374311.2:c.1397C>T