ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826524293
Gene: OTX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1403565
ClinVar RCV Id:
RCV001925395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257453.1:p.Ser252Ala
CA390051147
NM_001270524.2:c.754T>G