ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827914653
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1385404
ClinVar RCV Id:
RCV001888805
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341593.1:p.Val432Ile
CA355790516
NM_001354664.2:c.1294G>A