ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825359534
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
802509
ClinVar RCV Id:
RCV000988250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027392.1:p.Ala102del
CA915947151
NM_001032221.6:c.303_305del