Allele Registry

Canonical Allele Identifier: PA2828499452

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000604912

RCV003753138

ClinVar Variation:

511119

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361239.1:p.Ala503Thr	CA374939018 NM_001374310.2:c.1507G>A