Canonical Allele Identifier: PA2828500068
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1803078
ClinVar RCV Id: RCV002466375

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Ala539Pro
CA374939513
NM_001374311.2:c.1615G>C