Canonical Allele Identifier: PA2827914326
Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2802343
ClinVar RCV Id: RCV003668774

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341592.1:p.Phe794Leu
CA355797374
NM_001354663.2:c.2380T>C
CA355797391
NM_001354663.2:c.2382T>A
CA355797392
NM_001354663.2:c.2382T>G