ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826524541
Gene: OTX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2544050
ClinVar RCV Id:
RCV003272275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257454.1:p.Leu239Phe
CA7200432
NM_001270525.2:c.715C>T