Canonical Allele Identifier: PA2828499742
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 810416
ClinVar RCV Id: RCV000999213
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Leu219Pro
CA374933837
NM_001374311.2:c.656T>C