Allele Registry

Canonical Allele Identifier: PA645402168

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000430934

RCV001265344

ClinVar Variation:

389269

HGVS (amino-acid)	Matching Registered Transcripts
NP_003156.1:p.Asn548Asp	CA16605477 NM_003165.6:c.1642A>G