Canonical Allele Identifier: PA302346
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 191238

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Arg292Cys
CA302345
NM_003165.6:c.874C>T