Canonical Allele Identifier: PA2828501780
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2584351
ClinVar RCV Id: RCV003335799

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Tyr554Ser
CA374939536
NM_001374314.1:c.1661A>C