ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826523955
Gene: OTX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257452.1:p.Ser247Asn
CA261910268
NM_001270523.2:c.740G>A