ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830180687
Gene: OPA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570845.1:p.Pro382Leu
CA274972
NM_130832.2:c.1145C>T