Allele Registry

Canonical Allele Identifier: PA645402144

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000412866

ClinVar Variation:

372989

HGVS (amino-acid)	Matching Registered Transcripts
NP_003156.1:p.Ala517Ser	CA16042662 NM_003165.6:c.1549G>T