ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916059633
Gene: OTX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
641871
ClinVar RCV Id:
RCV000795211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068374.1:p.Ala244Ser
CA390051243
NM_021728.4:c.730G>T