Canonical Allele Identifier: PA2828501478
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393201
ClinVar RCV Id: RCV000444312

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Leu256Pro
CA16605551
NM_001374314.1:c.767T>C