Canonical Allele Identifier: PA2828496892
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393116
ClinVar RCV Id: RCV000436434 RCV001265299 RCV002283481
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Thr245Ile
CA16606218
NM_001374306.2:c.734C>T