ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826523719
Gene: OTX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190251
ClinVar RCV Id:
RCV000170472
RCV000494571
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257452.1:p.Glu79Lys
CA199649
NM_001270523.2:c.235G>A