Canonical Allele Identifier: PA2828496765
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1054967
ClinVar RCV Id: RCV001363563

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Phe106Val
CA374931821
NM_001374306.2:c.316T>G