ClinGen Allele Registry
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Canonical Allele Identifier:
PA318831
Gene: STXBP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
202284
ClinVar RCV:
RCV000189584
RCV000698059
RCV001088539
RCV002317654
RCV004553036
ClinVar Variation:
207404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003156.1:p.Val84Ile
CA318830
NM_003165.6:c.250G>A