ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828499702
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361240.1:p.Arg176Gln
CA318852
NM_001374311.2:c.527G>A