ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830181229
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1934587
ClinVar RCV Id:
RCV002632053
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570846.1:p.Phe157Ser
CA355788209
NM_130833.2:c.470T>C