ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA120501
Gene: OTX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9516
ClinVar RCV Id:
RCV000010124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_758840.1:p.Arg89Gly
CA120500
NM_172337.2:c.265C>G