Canonical Allele Identifier: PA2828502045
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393116
ClinVar RCV Id: RCV000436434 RCV001265299 RCV002283481
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Thr248Ile
CA16606218
NM_001374315.2:c.743C>T