Canonical Allele Identifier: PA2829421040
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 999379
ClinVar RCV Id: RCV001295371
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Val104Ile
CA5248289
NM_003165.6:c.310G>A