ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825606270
Gene: STXBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1449911
ClinVar RCV Id:
RCV002004715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120868.1:p.Val560Met
CA403162228
NM_001127396.3:c.1678G>A