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: PA2830181819

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427152

ClinVar RCV Id: RCV000489553 RCV001146349 RCV002307519

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_570846.1:p.Val934Ile	CA2759786 NM_130833.2:c.2800G>A