Canonical Allele Identifier: PA2828498598
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1755487
ClinVar RCV Id: RCV002369455
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361238.1:p.Arg213Cys
CA374933737
NM_001374309.2:c.637C>T