Allele Registry

Canonical Allele Identifier: PA2828498129

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000080077

RCV000779645

RCV001258011

RCV001795096

RCV002514407

ClinVar Variation:

94116

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361237.1:p.Pro321Leu	CA221967 NM_001374308.2:c.962C>T