ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580288013
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003156.1:p.Leu179His
CA374933116
NM_003165.6:c.536T>A