ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826524260
Gene: OTX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30023
ClinVar RCV Id:
RCV000022923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257453.1:p.Asn225Ser
CA128835
NM_001270524.2:c.674A>G