ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830184210
Gene: OPA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570850.2:p.Arg247Cys
CA90574844
NM_130837.2:c.739C>T