ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830183043
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1991906
ClinVar RCV Id:
RCV002790976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570848.1:p.Met552Val
CA2759493
NM_130835.2:c.1654A>G