Allele Registry

Canonical Allele Identifier: PA2828501555

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000080077

RCV000779645

RCV001258011

RCV001795096

RCV002514407

ClinVar Variation:

94116

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361243.1:p.Pro335Leu	CA221967 NM_001374314.1:c.1004C>T