Canonical Allele Identifier: PA2828502315
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2584351
ClinVar RCV Id: RCV003335799

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Tyr518Ser
CA374939536
NM_001374315.2:c.1553A>C