Allele Registry

Canonical Allele Identifier: PA2828499378

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000007120

ClinVar Variation:

6728

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361239.1:p.Met429Arg	CA118452 NM_001374310.2:c.1286T>G