ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828500469
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361241.1:p.Leu412Pro
CA10588466
NM_001374312.2:c.1235T>C