ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830183325
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427152
ClinVar RCV Id:
RCV000489553
RCV001146349
RCV002307519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570848.1:p.Val952Ile
CA2759786
NM_130835.2:c.2854G>A