ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828496737
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1404414
ClinVar RCV Id:
RCV001901635
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361235.1:p.Ser83Phe
CA374931672
NM_001374306.2:c.248C>T