Canonical Allele Identifier: PA2499288218
Gene: OTX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1037465
ClinVar RCV Id: RCV001340623

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_068374.1:p.Val129Leu
CA390051968
NM_021728.4:c.385G>T
CA390051970
NM_021728.4:c.385G>C