Canonical Allele Identifier: PA2830183670
Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 559265
ClinVar RCV Id: RCV000676695
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570849.2:p.Ser381Arg
CA355788877
NM_130836.2:c.1141A>C
CA355788881
NM_130836.2:c.1143T>A
CA355788882
NM_130836.2:c.1143T>G