Canonical Allele Identifier: PA1139743324
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 975912
ClinVar RCV Id: RCV001253047
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Ala88Val
CA374931798
NM_001374312.2:c.263C>T