ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830181738
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214892
ClinVar RCV Id:
RCV000487683
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570846.1:p.Arg825Gln
CA323895
NM_130833.2:c.2474G>A