ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826524568
Gene: OTX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426512
ClinVar RCV Id:
RCV000489877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257454.1:p.Ser255Asn
CA261910268
NM_001270525.2:c.764G>A