Canonical Allele Identifier: PA2830183667
Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2700435
ClinVar RCV Id: RCV003547225
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570849.2:p.Val375Leu
CA355788837
NM_130836.2:c.1123G>C
CA355788838
NM_130836.2:c.1123G>T