ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916039049
Gene: OPA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341593.1:p.Ser76Phe
CA2759090
NM_001354664.2:c.227C>T