ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830181966
Gene: OPA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570847.2:p.Asp148Asn
CA2759010
NM_130834.2:c.442G>A