Canonical Allele Identifier: PA1139738688
Gene: OTX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 839839
ClinVar RCV Id: RCV001041689 RCV003130112 RCV003243417
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_068374.1:p.Thr248Ile
CA7200429
NM_021728.4:c.743C>T