Canonical Allele Identifier: PA2828496737
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1404414
ClinVar RCV Id: RCV001901635

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Ser83Phe
CA374931672
NM_001374306.2:c.248C>T