ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3086624065
Gene: OPA3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001017989.2:p.Pro168Leu
CA406381064
NM_001017989.3:c.503C>T