ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828501451
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
810416
ClinVar RCV Id:
RCV000999213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361243.1:p.Leu233Pro
CA374933837
NM_001374314.1:c.698T>C