ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA320570
Gene: OPA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_056375.2:p.Val294Phe
NM_015560.3:c.880G>T