ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093060
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027392.1:p.Arg406His
CA10603018
NM_001032221.6:c.1217G>A