Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2742008235

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2802343

ClinVar RCV Id: RCV003668774

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_570850.2:p.Phe972Leu	CA355797374 NM_130837.2:c.2914T>C CA355797391 NM_130837.2:c.2916T>A CA355797392 NM_130837.2:c.2916T>G