Canonical Allele Identifier: PA2830183042
Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718369
ClinVar RCV Id: RCV002299767
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570848.1:p.Met552Leu
CA355790359
NM_130835.2:c.1654A>C
CA355790360
NM_130835.2:c.1654A>T