Allele Registry

Canonical Allele Identifier: PA2828501152

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000604912

RCV003753138

ClinVar Variation:

511119

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Ala517Thr	CA374939018 NM_001374313.2:c.1549G>A