Canonical Allele Identifier: PA2830180779
Gene: OPA1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570845.1:p.Gln506His
CA2759463
NM_130832.2:c.1518G>C
CA355790295
NM_130832.2:c.1518G>T