Canonical Allele Identifier: PA2828501451
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 810416
ClinVar RCV Id: RCV000999213

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Leu233Pro
CA374933837
NM_001374314.1:c.698T>C