ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825360050
Gene: STXBP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000415156
ClinVar Variation:
374223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027392.1:p.Thr361Ile
CA16043619
NM_001032221.6:c.1082C>T