ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830180805
Gene: OPA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000712462
ClinVar Variation:
586196
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570845.1:p.Arg539del
CA891843448
NM_130832.2:c.1615_1617del