ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830182873
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1698189
ClinVar RCV Id:
RCV002269612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570848.1:p.Arg331Gln
CA2759262
NM_130835.2:c.992G>A