ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828501780
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361243.1:p.Tyr554Ser
CA374939536
NM_001374314.1:c.1661A>C