Allele Registry

Canonical Allele Identifier: PA2828502289

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000007118

RCV003588557

ClinVar Variation:

6726

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361244.1:p.Gly508Asp	CA118448 NM_001374315.2:c.1523G>A