Canonical Allele Identifier: PA2828500761
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1054967
ClinVar RCV Id: RCV001363563

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Phe106Val
CA374931821
NM_001374313.2:c.316T>G