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: PA2830179873

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5084

ClinVar RCV Id: RCV000005389 RCV000790668 RCV001336297

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_570844.1:p.Arg254Gln	CA223219 NM_130831.2:c.761G>A