ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828502150
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_001361244.1:p.Arg370Gly
CA374937075
NM_001374315.2:c.1108C>G