Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2830181372

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2905648

ClinVar RCV Id: RCV003731808

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_570846.1:p.Met322Ile	CA2759264 NM_130833.2:c.966G>A CA355788472 NM_130833.2:c.966G>T CA355788473 NM_130833.2:c.966G>C