Canonical Allele Identifier: PA2825359543
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 999379
ClinVar RCV Id: RCV001295371

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001027392.1:p.Val104Ile
CA5248289
NM_001032221.6:c.310G>A