Canonical Allele Identifier: PA2827914490
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_001341593.1:p.Val214Leu
CA355788837
NM_001354664.2:c.640G>C
CA355788838
NM_001354664.2:c.640G>T