ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830351184
Gene: OTX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2699298
ClinVar RCV Id:
RCV003530441
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_758840.1:p.Ala226Val
CA390051303
NM_172337.2:c.677C>T