ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828501458
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361243.1:p.Ser241Tyr
CA374933977
NM_001374314.1:c.722C>A