Canonical Allele Identifier: PA2828498931
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1803078
ClinVar RCV Id: RCV002466375

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361238.1:p.Ala539Pro
CA374939513
NM_001374309.2:c.1615G>C