ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828500484
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361241.1:p.Ile425Phe
CA374937465
NM_001374312.2:c.1273A>T