ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828499603
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6729
ClinVar RCV Id:
RCV000007121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361240.1:p.Val70Asp
CA118454
NM_001374311.2:c.209T>A