ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828498780
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361238.1:p.Gly403Arg
CA374937186
NM_001374309.2:c.1207G>C