Canonical Allele Identifier: PA2828500455
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1367883
ClinVar RCV Id: RCV001932595

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Ile393Val
CA374937078
NM_001374312.2:c.1177A>G