ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139738688
Gene: OTX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068374.1:p.Thr248Ile
CA7200429
NM_021728.4:c.743C>T