Canonical Allele Identifier: PA2830181474
Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5091
ClinVar RCV Id: RCV000005396 RCV000081749 RCV000508953 RCV003137493 RCV003492285
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570846.1:p.Arg446His
CA275012
NM_130833.2:c.1337G>A