Canonical Allele Identifier: PA2828498057
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 870204
ClinVar RCV Id: RCV001089745
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361237.1:p.Asp248Tyr
CA374934247
NM_001374308.2:c.742G>T