ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828501038
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_001361242.1:p.Arg406Gly
CA374937075
NM_001374313.2:c.1216C>G