ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828497045
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1367883
ClinVar RCV Id:
RCV001932595
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361235.1:p.Ile404Val
CA374937078
NM_001374306.2:c.1210A>G