ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828501648
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361243.1:p.Ile439Phe
CA374937465
NM_001374314.1:c.1315A>T