ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826523906
Gene: OTX2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000338364
RCV000536545
RCV000989231
RCV001111279
RCV003165764
ClinVar Variation:
288894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257452.1:p.Thr206Asn
CA7200447
NM_001270523.2:c.617C>A