ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830181072
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_570845.1:p.Gln916Arg
CA2759787
NM_130832.2:c.2747A>G