Allele Registry

Canonical Allele Identifier: PA2828501121

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000729430

ClinVar Variation:

594197

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Trp478Cys	CA374937909 NM_001374313.2:c.1434G>C CA374937911 NM_001374313.2:c.1434G>T