ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828499341
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
812768
ClinVar RCV Id:
RCV001003593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361239.1:p.Arg392Gly
CA374937075
NM_001374310.2:c.1174C>G