ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827914076
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_001341592.1:p.Arg434del
CA891843448
NM_001354663.2:c.1300_1302del