Canonical Allele Identifier: PA2828500614
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2795876
ClinVar RCV Id: RCV003753892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Ala539Thr
CA374939511
NM_001374312.2:c.1615G>A