Canonical Allele Identifier: PA2828498525
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1027456
ClinVar RCV Id: RCV001647178 RCV001859245 RCV002286839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361238.1:p.Tyr131Cys
CA374932881
NM_001374309.2:c.392A>G