ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829800071
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452064
ClinVar RCV Id:
RCV000519220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056375.2:p.Glu558Ala
CA90536262
NM_015560.3:c.1673A>C