ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826523747
Gene: OTX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257452.1:p.Ala91Asp
CA390052166
NM_001270523.2:c.272C>A