ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573276301
Gene: OTX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068374.1:p.Pro148Leu
CA7200479
NM_021728.4:c.443C>T