Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2826523760

Gene: OTX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1417039

ClinVar RCV Id: RCV001923494 RCV002491890 RCV003395285

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001257452.1:p.Arg119Gln	CA7200495 NM_001270523.2:c.356G>A