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.
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Canonical Allele Identifier: PA2827913951

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1316911

ClinVar RCV Id: RCV001757727

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341592.1:p.Met271Ile	CA90532230 NM_001354663.2:c.813G>A CA355789286 NM_001354663.2:c.813G>T CA355789287 NM_001354663.2:c.813G>C