ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573205305
Gene: OPA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341593.1:p.Ala31Val
CA2759029
NM_001354664.2:c.92C>T