Allele Registry

Canonical Allele Identifier: PA2828496738

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000007121

ClinVar Variation:

6729

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361235.1:p.Val84Asp	CA118454 NM_001374306.2:c.251T>A