Canonical Allele Identifier: PA2828501911
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 807505
ClinVar RCV Id: RCV000995655

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.His103Pro
CA374931802
NM_001374315.2:c.308A>C