ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828498222
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361237.1:p.Ile425Asn
CA374937466
NM_001374308.2:c.1274T>A