Canonical Allele Identifier: PA2499254919
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 999379
ClinVar RCV Id: RCV001295371

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Val90Ile
CA5248289
NM_001374312.2:c.268G>A