ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828499820
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420158
ClinVar RCV Id:
RCV000485374
RCV001851183
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361240.1:p.Ala283Thr
CA16618741
NM_001374311.2:c.847G>A