Allele Registry

Canonical Allele Identifier: PA2828501076

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000007120

ClinVar Variation:

6728

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Met443Arg	CA118452 NM_001374313.2:c.1328T>G