ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580429664
Gene: OTX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068374.1:p.Pro243Leu
CA261910272
NM_021728.4:c.728C>T