ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573064415
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027392.1:p.Thr570Ile
CA374943214
NM_001032221.6:c.1709C>T