Allele Registry

Canonical Allele Identifier: PA093099

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000007118

RCV003588557

ClinVar Variation:

6726

HGVS (amino-acid)	Matching Registered Transcripts
NP_001027392.1:p.Gly544Asp	CA118448 NM_001032221.6:c.1631G>A