Allele Registry

Canonical Allele Identifier: PA2828500834

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000189599

RCV000415749

RCV000548823

RCV001265515

RCV002273977

ClinVar Variation:

207417

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Arg190Trp	CA318850 NM_001374313.2:c.568C>T