ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830181114
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496871
ClinVar RCV Id:
RCV000594159
RCV001335766
RCV001662637
RCV002530950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570846.1:p.Pro29Ala
CA2758932
NM_130833.2:c.85C>G