ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916061672
Gene: OPTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7102
ClinVar RCV Id:
RCV000007520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068815.2:p.Glu478Gly
CA254105
NM_021980.4:c.1433A>G