ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830180604
Gene: OPA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005385
ClinVar Variation:
5080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570845.1:p.Gly282Glu
CA253410
NM_130832.2:c.845G>A