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: PA2830183411

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 502104

ClinVar RCV Id: RCV000594887 RCV001197081

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_570849.2:p.Tyr82Cys	CA2758956 NM_130836.2:c.245A>G