ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828499589
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361240.1:p.Tyr61His
CA375176484
NM_001374311.2:c.181T>C