Allele Registry

Canonical Allele Identifier: PA2828496874

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000489440

ClinVar Variation:

427203

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361235.1:p.Ile229Asn	CA374933817 NM_001374306.2:c.686T>A