Canonical Allele Identifier: PA2828501443
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1755487
ClinVar RCV Id: RCV002369455
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Arg227Cys
CA374933737
NM_001374314.1:c.679C>T