ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573298250
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1484322
ClinVar RCV Id:
RCV002005707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570850.2:p.Thr436Asn
CA355789147
NM_130837.2:c.1307C>A