ClinGen Allele Registry
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Canonical Allele Identifier:
PA916048880
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361241.1:p.His89Pro
CA374931802
NM_001374312.2:c.266A>C