Canonical Allele Identifier: PA2830180687
Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 194096
ClinVar RCV Id: RCV000174378
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570845.1:p.Pro382Leu
CA274972
NM_130832.2:c.1145C>T