Canonical Allele Identifier: PA2828499245
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372603
ClinVar RCV Id: RCV000414192
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361239.1:p.His279Tyr
CA16042764
NM_001374310.2:c.835C>T