ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827914343
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1914257
ClinVar RCV Id:
RCV002590330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341592.1:p.Gln811Arg
CA2759787
NM_001354663.2:c.2432A>G