Canonical Allele Identifier: PA2828500452
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207431
ClinVar RCV Id: RCV000189614 RCV000417024 RCV000636419 RCV001332690 RCV001265293 RCV004020295
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Arg392Cys
CA318875
NM_001374312.2:c.1174C>T