ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830183634
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2016336
ClinVar RCV Id:
RCV002843847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570849.2:p.Ser340Ile
CA355788305
NM_130836.2:c.1019G>T