ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828501456
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450327
ClinVar RCV Id:
RCV000519228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361243.1:p.Gly236Asp
CA374933892
NM_001374314.1:c.707G>A