ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826524354
Gene: OTX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257454.1:p.Ala56Glu
CA390052469
NM_001270525.2:c.167C>A