ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827914481
Gene: OPA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341593.1:p.Lys204Arg
CA285745
NM_001354664.2:c.611A>G