ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827914919
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1027567
ClinVar RCV Id:
RCV001328034
RCV001859249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341593.1:p.Arg808Cys
CA2759785
NM_001354664.2:c.2422C>T