ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830351203
Gene: OTX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_758840.1:p.Thr253Ile
CA7200424
NM_172337.2:c.758C>T