Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2830183049

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30461

ClinVar RCV Id: RCV000023415 RCV000508898 RCV001659726 RCV002464072

ClinVar Variation Id: 95712

ClinVar RCV Id: RCV000175211 RCV004529860

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_570848.1:p.Ser564Arg	CA223205 NM_130835.2:c.1692C>A CA10575554 NM_130835.2:c.1692C>G CA355790437 NM_130835.2:c.1690A>C