Allele Registry

Canonical Allele Identifier: PA2826524069

Gene: OTX2 HGNC NCBI

ClinVar RCV:

RCV000170472

RCV000494571

ClinVar Variation:

190251

HGVS (amino-acid)	Matching Registered Transcripts
NP_001257453.1:p.Glu79Lys	CA199649 NM_001270524.2:c.235G>A