Canonical Allele Identifier: PA2829421037
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 975912
ClinVar RCV Id: RCV001253047

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Ala102Val
CA374931798
NM_003165.6:c.305C>T