Allele Registry

Canonical Allele Identifier: PA2828499476

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000007118

RCV003588557

ClinVar Variation:

6726

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361239.1:p.Gly530Asp	CA118448 NM_001374310.2:c.1589G>A