Canonical Allele Identifier: PA2573228299
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1350456
ClinVar RCV Id: RCV002051333
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Pro242_Val243insGly
CA2573144059
NM_003165.6:c.725_726insGGG