Allele Registry

Canonical Allele Identifier: PA2828497124

Gene: STXBP1 HGNC NCBI

ClinVar Allele:

202320

ClinVar RCV:

RCV000189615

RCV000415832

RCV000471170

RCV001260800

RCV002514068

ClinVar Variation:

207432

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361235.1:p.Pro477Leu	CA318877 NM_001374306.2:c.1430C>T