ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827913952
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1983543
ClinVar RCV Id:
RCV002800028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341592.1:p.Met271Val
CA2759356
NM_001354663.2:c.811A>G